Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Nbeal2'

702623

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 #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110453857-110483229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110462115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1475 (V1475F)

Ref Sequence

ENSEMBL: ENSMUSP00000128586 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000123996

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: V756F

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

probably benign
Transcript: ENSMUST00000131017

SMART Domains

Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724

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

probably damaging
Transcript: ENSMUST00000133191
AA Change: V1468F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: V1468F

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 damaging
Transcript: ENSMUST00000167320
AA Change: V1475F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: V1475F

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 damaging
Transcript: ENSMUST00000196488
AA Change: V1441F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: V1441F

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

Meta Mutation Damage Score

0.1481

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Abcd2	T	A	15: 91,063,423 (GRCm39)	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Cpne4	T	A	9: 104,884,833 (GRCm39)	V343E	probably damaging	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Haus3	T	A	5: 34,311,452 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Orc4	T	A	2: 48,827,534 (GRCm39)	R20*	probably null	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stam2	A	T	2: 52,604,903 (GRCm39)	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tnk2	A	G	16: 32,494,489 (GRCm39)	D469G	probably damaging	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	possibly damaging	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
R9313:Nbeal2	UTSW	9	110,463,436 (GRCm39)	missense	probably damaging	1.00
R9352:Nbeal2	UTSW	9	110,456,916 (GRCm39)	missense	probably benign	0.03
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'- GGCTGACTCTAACATCATCTCTAGG -3'
(R):5'- TGTTTGCCGAATGCTGCCTC -3'

Sequencing Primer
(F):5'- CTAACATCATCTCTAGGAGGCTGG -3'
(R):5'- CATTCCTGCCTGTGGGTAGACAG -3'

Posted On

2022-03-25