Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Nbeal2'

708148

Institutional Source

Beutler Lab

Gene Symbol

Nbeal2

Ensembl Gene

ENSMUSG00000056724

Gene Name

neurobeachin-like 2

Synonyms

1110014F23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110453857-110483229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110456916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2361 (I2361F)

Ref Sequence

ENSEMBL: ENSMUSP00000128586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035069] [ENSMUST00000133191] [ENSMUST00000167320] [ENSMUST00000196488] [ENSMUST00000196735] [ENSMUST00000196876]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035069

SMART Domains

Protein: ENSMUSP00000035069
Gene: ENSMUSG00000032491

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
Pfam:Death	143	222	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123996

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: I1642F

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	236	248	N/A	INTRINSIC
Pfam:DUF4704	345	607	2.5e-29	PFAM
low complexity region	649	664	N/A	INTRINSIC
low complexity region	804	819	N/A	INTRINSIC
Pfam:DUF4800	872	1138	9.9e-113	PFAM
low complexity region	1164	1193	N/A	INTRINSIC
Pfam:PH_BEACH	1204	1291	2.2e-21	PFAM
Beach	1343	1623	5.2e-205	SMART
WD40	1721	1766	1.03e1	SMART
WD40	1769	1808	6.19e-5	SMART
WD40	1820	1859	1.02e-5	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
AA Change: I713F

Domain	Start	End	E-Value	Type
Pfam:DUF4800	1	209	7.5e-97	PFAM
low complexity region	235	264	N/A	INTRINSIC
Pfam:PH_BEACH	275	362	1e-21	PFAM
Beach	414	694	5.2e-205	SMART
WD40	762	807	1.03e1	SMART
WD40	810	849	6.19e-5	SMART
WD40	861	900	1.02e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133191
AA Change: I2354F

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: I2354F

Domain	Start	End	E-Value	Type
low complexity region	56	84	N/A	INTRINSIC
low complexity region	192	201	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	527	542	N/A	INTRINSIC
Pfam:Laminin_G_3	578	818	5.9e-8	PFAM
low complexity region	1014	1028	N/A	INTRINSIC
low complexity region	1128	1136	N/A	INTRINSIC
low complexity region	1149	1163	N/A	INTRINSIC
low complexity region	1359	1375	N/A	INTRINSIC
low complexity region	1515	1530	N/A	INTRINSIC
low complexity region	1621	1647	N/A	INTRINSIC
low complexity region	1875	1904	N/A	INTRINSIC
Pfam:PH_BEACH	1908	2002	6.2e-28	PFAM
Beach	2054	2334	5.2e-205	SMART
WD40	2432	2477	1.03e1	SMART
WD40	2480	2519	6.19e-5	SMART
WD40	2531	2570	1.02e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167320
AA Change: I2361F

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: I2361F

Domain	Start	End	E-Value	Type
low complexity region	56	84	N/A	INTRINSIC
low complexity region	192	201	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	527	542	N/A	INTRINSIC
low complexity region	763	775	N/A	INTRINSIC
Pfam:DUF4704	872	1148	9.2e-32	PFAM
low complexity region	1149	1163	N/A	INTRINSIC
low complexity region	1366	1382	N/A	INTRINSIC
low complexity region	1522	1537	N/A	INTRINSIC
Pfam:DUF4800	1590	1856	1.5e-112	PFAM
low complexity region	1882	1911	N/A	INTRINSIC
Pfam:PH_BEACH	1922	2009	3.1e-21	PFAM
Beach	2061	2341	5.2e-205	SMART
WD40	2439	2484	1.03e1	SMART
WD40	2487	2526	6.19e-5	SMART
WD40	2538	2577	1.02e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196488
AA Change: I2327F

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: I2327F

Domain	Start	End	E-Value	Type
low complexity region	56	84	N/A	INTRINSIC
low complexity region	192	201	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	487	495	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
Pfam:Laminin_G_3	551	791	5.3e-6	PFAM
low complexity region	987	1001	N/A	INTRINSIC
low complexity region	1101	1109	N/A	INTRINSIC
low complexity region	1122	1136	N/A	INTRINSIC
low complexity region	1332	1348	N/A	INTRINSIC
low complexity region	1488	1503	N/A	INTRINSIC
low complexity region	1594	1620	N/A	INTRINSIC
low complexity region	1848	1877	N/A	INTRINSIC
Pfam:PH_BEACH	1881	1975	3.1e-25	PFAM
Beach	2027	2307	3.8e-209	SMART
WD40	2405	2450	6.3e-2	SMART
WD40	2453	2492	3.8e-7	SMART
WD40	2504	2543	6.5e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196735

SMART Domains

Protein: ENSMUSP00000143785
Gene: ENSMUSG00000032491

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
Pfam:Death	143	200	2.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196876

SMART Domains

Protein: ENSMUSP00000142925
Gene: ENSMUSG00000032491

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	T	7: 82,091,656 (GRCm39)	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,807,428 (GRCm39)	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,439,783 (GRCm39)	D537Y	probably benign	Het
Anxa4	C	T	6: 86,742,775 (GRCm39)		probably benign	Het
Arfgap3	T	A	15: 83,191,127 (GRCm39)	I464L	possibly damaging	Het
Asb2	C	T	12: 103,296,698 (GRCm39)	V320I	probably damaging	Het
Axl	T	C	7: 25,462,752 (GRCm39)	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,461,394 (GRCm39)	H139R	probably benign	Het
Birc6	G	A	17: 74,965,347 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,067,787 (GRCm39)	F126Y	probably damaging	Het
Chrnb4	T	A	9: 54,951,167 (GRCm39)	D32V	probably benign	Het
Chst15	C	A	7: 131,872,257 (GRCm39)	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,399,463 (GRCm39)	I439V	probably benign	Het
Crisp2	T	A	17: 41,078,200 (GRCm39)	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,801,997 (GRCm39)	T354M	probably benign	Het
Cul1	T	A	6: 47,479,426 (GRCm39)	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,752,920 (GRCm39)	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,398,581 (GRCm39)	D232G	probably damaging	Het
Dnah1	G	T	14: 31,038,620 (GRCm39)	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,840,384 (GRCm39)	V304A	probably benign	Het
Dok6	T	C	18: 89,492,133 (GRCm39)	N148S	probably benign	Het
Fnta	A	T	8: 26,501,119 (GRCm39)	W134R	probably damaging	Het
Garin5b	T	A	7: 4,761,605 (GRCm39)	Y369F		Het
Gm32742	T	G	9: 51,052,544 (GRCm39)	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,208,318 (GRCm39)	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,268,350 (GRCm39)	N486D	probably benign	Het
H2-Q4	T	G	17: 35,601,909 (GRCm39)	F257C	probably damaging	Het
Hfe	A	G	13: 23,890,119 (GRCm39)	V218A	probably benign	Het
Htr2b	A	G	1: 86,027,294 (GRCm39)	V404A	probably benign	Het
Hyou1	T	A	9: 44,300,926 (GRCm39)		probably null	Het
Ikbkb	T	C	8: 23,150,444 (GRCm39)	D746G	probably benign	Het
Ikzf4	T	C	10: 128,472,623 (GRCm39)	N251S	probably benign	Het
Il23r	A	C	6: 67,403,592 (GRCm39)	N436K	probably damaging	Het
Impg2	A	T	16: 56,072,470 (GRCm39)	I301L	probably benign	Het
Irf4	A	T	13: 30,936,706 (GRCm39)	M146L	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,704,777 (GRCm39)	S665G	probably damaging	Het
Kiz	T	C	2: 146,794,927 (GRCm39)	S596P	probably damaging	Het
Kpna2	T	C	11: 106,880,292 (GRCm39)	E452G	probably damaging	Het
Lclat1	A	G	17: 73,468,937 (GRCm39)	Y39C	probably damaging	Het
Lig3	A	G	11: 82,686,971 (GRCm39)	S705G	probably benign	Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map3k8	C	T	18: 4,349,170 (GRCm39)	M49I	probably benign	Het
Mep1b	A	G	18: 21,209,431 (GRCm39)	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,857,533 (GRCm39)	S342R	probably benign	Het
Mthfd2l	G	T	5: 91,109,172 (GRCm39)	V201L	possibly damaging	Het
Naip6	G	T	13: 100,437,893 (GRCm39)	T371K	possibly damaging	Het
Naxd	T	C	8: 11,555,504 (GRCm39)	I104T	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e17	A	G	11: 73,831,470 (GRCm39)	T133A	probably benign	Het
Or6c75	A	T	10: 129,337,364 (GRCm39)	M196L	probably benign	Het
Or8b8	A	G	9: 37,808,712 (GRCm39)	E4G	probably benign	Het
Or8c16	T	G	9: 38,130,683 (GRCm39)	L185R	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Polq	T	C	16: 36,862,252 (GRCm39)	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 21,185,499 (GRCm39)		probably null	Het
Prrc1	A	G	18: 57,522,317 (GRCm39)	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,541,160 (GRCm39)	V116D	probably damaging	Het
Qpctl	C	T	7: 18,878,599 (GRCm39)	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,278,280 (GRCm39)	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,211,498 (GRCm39)	N385K	probably benign	Het
Rbbp8nl	A	G	2: 179,921,053 (GRCm39)	S444P	probably benign	Het
Resf1	T	C	6: 149,236,180 (GRCm39)	F1500S	probably damaging	Het
Sf3a1	G	A	11: 4,110,494 (GRCm39)	A3T	unknown	Het
Slc1a4	A	G	11: 20,282,025 (GRCm39)	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,281,522 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,940,380 (GRCm39)	I702T	probably benign	Het
Slc36a4	T	A	9: 15,633,319 (GRCm39)		probably null	Het
Slf2	A	G	19: 44,931,957 (GRCm39)	R671G	probably null	Het
Smarcc1	A	G	9: 110,035,220 (GRCm39)	K881R	probably null	Het
Srsf11	A	G	3: 157,717,836 (GRCm39)	V414A	unknown	Het
Tcn2	T	C	11: 3,873,446 (GRCm39)	N300S	probably damaging	Het
Tecta	T	C	9: 42,249,147 (GRCm39)	K1905R	probably damaging	Het
Tex30	T	G	1: 44,130,753 (GRCm39)		probably null	Het
Tktl2	A	T	8: 66,965,974 (GRCm39)	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,398,881 (GRCm39)	Q183K	probably benign	Het
Trib2	A	C	12: 15,865,413 (GRCm39)	I30R	probably benign	Het
Tti1	A	G	2: 157,842,692 (GRCm39)	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313 (GRCm39)		probably null	Het
Vmn2r112	A	G	17: 22,822,479 (GRCm39)	T386A	probably damaging	Het
Vps16	T	C	2: 130,283,823 (GRCm39)		probably null	Het
Zan	T	G	5: 137,434,745 (GRCm39)	N2186T	unknown	Het
Zdhhc11	C	T	13: 74,121,800 (GRCm39)	R104*	probably null	Het
Zfp318	T	G	17: 46,721,284 (GRCm39)	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,742,242 (GRCm39)	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,775,674 (GRCm39)	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,461,335 (GRCm39)	T266A	probably benign	Het

Other mutations in Nbeal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Nbeal2	APN	9	110,464,937 (GRCm39)	missense	probably damaging	1.00
IGL00784:Nbeal2	APN	9	110,458,831 (GRCm39)	splice site	probably benign
IGL00826:Nbeal2	APN	9	110,455,971 (GRCm39)	missense	probably benign
IGL00885:Nbeal2	APN	9	110,467,729 (GRCm39)	missense	probably damaging	1.00
IGL01348:Nbeal2	APN	9	110,458,214 (GRCm39)	missense	probably damaging	0.99
IGL01511:Nbeal2	APN	9	110,458,302 (GRCm39)	missense	probably damaging	1.00
IGL01571:Nbeal2	APN	9	110,461,826 (GRCm39)	missense	possibly damaging	0.63
IGL01612:Nbeal2	APN	9	110,473,746 (GRCm39)	missense	probably damaging	1.00
IGL01924:Nbeal2	APN	9	110,460,482 (GRCm39)	missense	probably benign	0.23
IGL02056:Nbeal2	APN	9	110,456,392 (GRCm39)	missense	probably benign	0.17
IGL02481:Nbeal2	APN	9	110,455,063 (GRCm39)	nonsense	probably null
IGL02483:Nbeal2	APN	9	110,455,063 (GRCm39)	nonsense	probably null
IGL02502:Nbeal2	APN	9	110,462,836 (GRCm39)	missense	probably damaging	1.00
IGL02631:Nbeal2	APN	9	110,459,276 (GRCm39)	missense	probably damaging	0.99
IGL02637:Nbeal2	APN	9	110,455,045 (GRCm39)	missense	possibly damaging	0.62
IGL02727:Nbeal2	APN	9	110,468,353 (GRCm39)	splice site	probably benign
IGL02887:Nbeal2	APN	9	110,457,344 (GRCm39)	missense	probably damaging	1.00
IGL02896:Nbeal2	APN	9	110,468,360 (GRCm39)	critical splice donor site	probably null
IGL03110:Nbeal2	APN	9	110,460,501 (GRCm39)	missense	probably damaging	1.00
Antonym	UTSW	9	110,459,320 (GRCm39)	missense	probably damaging	1.00
Beowulf	UTSW	9	110,467,005 (GRCm39)	missense	possibly damaging	0.65
Blackmail	UTSW	9	110,458,707 (GRCm39)	missense	probably damaging	1.00
dog	UTSW	9	110,464,409 (GRCm39)	missense	possibly damaging	0.89
extortion	UTSW	9	110,459,311 (GRCm39)	missense	probably damaging	1.00
legion	UTSW	9	110,458,247 (GRCm39)	missense	probably damaging	1.00
litigious	UTSW	9	110,457,263 (GRCm39)	missense	probably damaging	1.00
mall	UTSW	9	110,461,954 (GRCm39)	missense	probably damaging	1.00
Mollusca	UTSW	9	110,474,506 (GRCm39)	splice site	probably null
Schleuter	UTSW	9	110,457,812 (GRCm39)	missense	possibly damaging	0.69
shellfish	UTSW	9	110,457,788 (GRCm39)	missense	probably damaging	1.00
Sophomoric	UTSW	9	110,462,115 (GRCm39)	missense	probably damaging	1.00
F5770:Nbeal2	UTSW	9	110,467,005 (GRCm39)	missense	possibly damaging	0.65
R0032:Nbeal2	UTSW	9	110,466,936 (GRCm39)	splice site	probably benign
R0084:Nbeal2	UTSW	9	110,472,778 (GRCm39)	critical splice donor site	probably null
R0147:Nbeal2	UTSW	9	110,471,211 (GRCm39)	nonsense	probably null
R0294:Nbeal2	UTSW	9	110,461,927 (GRCm39)	missense	probably damaging	1.00
R0310:Nbeal2	UTSW	9	110,467,231 (GRCm39)	missense	probably damaging	1.00
R0494:Nbeal2	UTSW	9	110,456,255 (GRCm39)	missense	probably damaging	1.00
R0550:Nbeal2	UTSW	9	110,471,226 (GRCm39)	missense	probably benign	0.01
R0630:Nbeal2	UTSW	9	110,465,102 (GRCm39)	splice site	probably benign
R0762:Nbeal2	UTSW	9	110,472,876 (GRCm39)	splice site	probably benign
R0862:Nbeal2	UTSW	9	110,457,263 (GRCm39)	missense	probably damaging	1.00
R0864:Nbeal2	UTSW	9	110,457,263 (GRCm39)	missense	probably damaging	1.00
R1225:Nbeal2	UTSW	9	110,461,954 (GRCm39)	missense	probably damaging	1.00
R1240:Nbeal2	UTSW	9	110,456,176 (GRCm39)	missense	probably damaging	0.98
R1450:Nbeal2	UTSW	9	110,462,740 (GRCm39)	splice site	probably benign
R1519:Nbeal2	UTSW	9	110,465,373 (GRCm39)	missense	probably damaging	1.00
R1655:Nbeal2	UTSW	9	110,461,940 (GRCm39)	missense	probably damaging	1.00
R1668:Nbeal2	UTSW	9	110,467,961 (GRCm39)	missense	probably damaging	1.00
R1705:Nbeal2	UTSW	9	110,454,264 (GRCm39)	missense	probably damaging	1.00
R1784:Nbeal2	UTSW	9	110,459,925 (GRCm39)	nonsense	probably null
R1834:Nbeal2	UTSW	9	110,456,197 (GRCm39)	missense	probably damaging	1.00
R1997:Nbeal2	UTSW	9	110,461,266 (GRCm39)	missense	probably damaging	1.00
R2013:Nbeal2	UTSW	9	110,463,139 (GRCm39)	missense	probably benign	0.09
R2014:Nbeal2	UTSW	9	110,463,139 (GRCm39)	missense	probably benign	0.09
R2055:Nbeal2	UTSW	9	110,464,375 (GRCm39)	missense	possibly damaging	0.92
R2086:Nbeal2	UTSW	9	110,463,139 (GRCm39)	missense	probably benign	0.09
R2113:Nbeal2	UTSW	9	110,454,474 (GRCm39)	missense	probably damaging	1.00
R2167:Nbeal2	UTSW	9	110,467,376 (GRCm39)	missense	probably damaging	1.00
R2201:Nbeal2	UTSW	9	110,459,318 (GRCm39)	missense	probably benign	0.16
R2309:Nbeal2	UTSW	9	110,455,638 (GRCm39)	missense	probably damaging	1.00
R2378:Nbeal2	UTSW	9	110,459,876 (GRCm39)	missense	probably damaging	0.99
R2945:Nbeal2	UTSW	9	110,457,136 (GRCm39)	missense	possibly damaging	0.82
R3052:Nbeal2	UTSW	9	110,462,153 (GRCm39)	missense	possibly damaging	0.93
R3076:Nbeal2	UTSW	9	110,460,768 (GRCm39)	missense	probably damaging	1.00
R3176:Nbeal2	UTSW	9	110,465,955 (GRCm39)	splice site	probably benign
R3974:Nbeal2	UTSW	9	110,462,914 (GRCm39)	missense	probably damaging	1.00
R4183:Nbeal2	UTSW	9	110,465,743 (GRCm39)	missense	probably benign
R4342:Nbeal2	UTSW	9	110,460,861 (GRCm39)	intron	probably benign
R4654:Nbeal2	UTSW	9	110,461,072 (GRCm39)	missense	probably damaging	1.00
R4707:Nbeal2	UTSW	9	110,461,123 (GRCm39)	missense	probably benign	0.10
R4822:Nbeal2	UTSW	9	110,465,383 (GRCm39)	missense	possibly damaging	0.82
R4854:Nbeal2	UTSW	9	110,460,464 (GRCm39)	missense	probably damaging	1.00
R4860:Nbeal2	UTSW	9	110,464,262 (GRCm39)	missense	probably benign	0.00
R4860:Nbeal2	UTSW	9	110,464,262 (GRCm39)	missense	probably benign	0.00
R4990:Nbeal2	UTSW	9	110,463,871 (GRCm39)	missense	probably benign	0.10
R4991:Nbeal2	UTSW	9	110,467,835 (GRCm39)	missense	probably damaging	1.00
R5021:Nbeal2	UTSW	9	110,466,531 (GRCm39)	missense	probably damaging	0.99
R5057:Nbeal2	UTSW	9	110,460,073 (GRCm39)	missense	probably damaging	1.00
R5092:Nbeal2	UTSW	9	110,455,796 (GRCm39)	splice site	probably null
R5161:Nbeal2	UTSW	9	110,458,936 (GRCm39)	missense	probably benign
R5202:Nbeal2	UTSW	9	110,473,734 (GRCm39)	missense	probably damaging	0.99
R5217:Nbeal2	UTSW	9	110,461,158 (GRCm39)	missense	possibly damaging	0.56
R5408:Nbeal2	UTSW	9	110,466,588 (GRCm39)	missense	possibly damaging	0.91
R5540:Nbeal2	UTSW	9	110,460,801 (GRCm39)	missense	probably damaging	1.00
R5866:Nbeal2	UTSW	9	110,460,560 (GRCm39)	missense	probably damaging	1.00
R5925:Nbeal2	UTSW	9	110,458,948 (GRCm39)	missense	probably benign	0.00
R6057:Nbeal2	UTSW	9	110,470,945 (GRCm39)	missense	possibly damaging	0.81
R6180:Nbeal2	UTSW	9	110,454,215 (GRCm39)	missense	probably damaging	1.00
R6191:Nbeal2	UTSW	9	110,457,058 (GRCm39)	critical splice donor site	probably null
R6232:Nbeal2	UTSW	9	110,467,802 (GRCm39)	missense	probably damaging	1.00
R6372:Nbeal2	UTSW	9	110,457,812 (GRCm39)	missense	possibly damaging	0.69
R6423:Nbeal2	UTSW	9	110,455,062 (GRCm39)	missense	probably damaging	1.00
R6543:Nbeal2	UTSW	9	110,473,526 (GRCm39)	missense	probably benign
R6648:Nbeal2	UTSW	9	110,466,710 (GRCm39)	missense	probably damaging	1.00
R6722:Nbeal2	UTSW	9	110,462,060 (GRCm39)	missense	probably damaging	1.00
R6738:Nbeal2	UTSW	9	110,465,973 (GRCm39)	missense	possibly damaging	0.93
R6916:Nbeal2	UTSW	9	110,455,176 (GRCm39)	missense	probably damaging	1.00
R6935:Nbeal2	UTSW	9	110,468,459 (GRCm39)	missense	probably damaging	1.00
R7022:Nbeal2	UTSW	9	110,467,686 (GRCm39)	missense	probably damaging	1.00
R7023:Nbeal2	UTSW	9	110,467,686 (GRCm39)	missense	probably damaging	1.00
R7050:Nbeal2	UTSW	9	110,457,788 (GRCm39)	missense	probably damaging	1.00
R7072:Nbeal2	UTSW	9	110,455,119 (GRCm39)	missense	probably benign	0.01
R7073:Nbeal2	UTSW	9	110,455,177 (GRCm39)	missense	probably damaging	0.99
R7099:Nbeal2	UTSW	9	110,474,506 (GRCm39)	splice site	probably null
R7354:Nbeal2	UTSW	9	110,458,247 (GRCm39)	missense	probably damaging	1.00
R7394:Nbeal2	UTSW	9	110,459,257 (GRCm39)	critical splice donor site	probably null
R7397:Nbeal2	UTSW	9	110,457,100 (GRCm39)	missense	possibly damaging	0.78
R7552:Nbeal2	UTSW	9	110,482,985 (GRCm39)	missense	probably benign	0.16
R7619:Nbeal2	UTSW	9	110,454,886 (GRCm39)	missense	probably benign	0.19
R7821:Nbeal2	UTSW	9	110,459,320 (GRCm39)	missense	probably damaging	1.00
R7902:Nbeal2	UTSW	9	110,466,615 (GRCm39)	missense	probably benign
R7923:Nbeal2	UTSW	9	110,460,514 (GRCm39)	nonsense	probably null
R8018:Nbeal2	UTSW	9	110,458,225 (GRCm39)	unclassified	probably benign
R8190:Nbeal2	UTSW	9	110,455,158 (GRCm39)	missense	probably benign	0.04
R8297:Nbeal2	UTSW	9	110,464,409 (GRCm39)	missense	possibly damaging	0.89
R8404:Nbeal2	UTSW	9	110,463,457 (GRCm39)	missense	possibly damaging	0.48
R8502:Nbeal2	UTSW	9	110,463,457 (GRCm39)	missense	possibly damaging	0.48
R8737:Nbeal2	UTSW	9	110,456,949 (GRCm39)	missense	probably damaging	1.00
R8782:Nbeal2	UTSW	9	110,459,873 (GRCm39)	missense	probably benign	0.04
R8807:Nbeal2	UTSW	9	110,458,707 (GRCm39)	missense	probably damaging	1.00
R8877:Nbeal2	UTSW	9	110,459,311 (GRCm39)	missense	probably damaging	1.00
R9057:Nbeal2	UTSW	9	110,456,218 (GRCm39)	missense	probably benign
R9267:Nbeal2	UTSW	9	110,462,115 (GRCm39)	missense	probably damaging	1.00
R9313:Nbeal2	UTSW	9	110,463,436 (GRCm39)	missense	probably damaging	1.00
R9482:Nbeal2	UTSW	9	110,463,066 (GRCm39)	missense	probably benign	0.25
R9533:Nbeal2	UTSW	9	110,473,729 (GRCm39)	missense	probably benign	0.01
R9566:Nbeal2	UTSW	9	110,457,989 (GRCm39)	missense	probably benign	0.00
R9769:Nbeal2	UTSW	9	110,455,347 (GRCm39)	missense	probably benign	0.01
V7583:Nbeal2	UTSW	9	110,467,005 (GRCm39)	missense	possibly damaging	0.65
X0017:Nbeal2	UTSW	9	110,473,346 (GRCm39)	missense	probably benign	0.02
X0065:Nbeal2	UTSW	9	110,473,481 (GRCm39)	splice site	probably benign
Z1088:Nbeal2	UTSW	9	110,461,440 (GRCm39)	missense	possibly damaging	0.51
Z1176:Nbeal2	UTSW	9	110,467,903 (GRCm39)	missense	probably benign
Z1176:Nbeal2	UTSW	9	110,454,884 (GRCm39)	missense	probably benign	0.01
Z1177:Nbeal2	UTSW	9	110,458,922 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGCACTTGGGAATCTCATCC -3'
(R):5'- AGGAGTTTTAACCACTCACCTTCC -3'

Sequencing Primer
(F):5'- TTGGGAATCTCATCCTGGCCG -3'
(R):5'- TCTGGAAGGCATCATCAGC -3'

Posted On

2022-04-18