Mutagenetix > Incidental Mutation

Incidental Mutation 'R8877:Nbeal2'

676644

Institutional Source

Beutler Lab

Gene Symbol

Nbeal2

Ensembl Gene

ENSMUSG00000056724

Gene Name

neurobeachin-like 2

Synonyms

1110014F23Rik

MMRRC Submission

068745-MU

Accession Numbers

Essential gene?

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

Stock #

R8877 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110453857-110483229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110459311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1939 (T1939I)

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

probably damaging
Transcript: ENSMUST00000130024
AA Change: T1220I

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

SMART Domains

Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: T1220I

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 damaging
Transcript: ENSMUST00000131017
AA Change: T291I

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

SMART Domains

Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
AA Change: T291I

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: T1932I

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

SMART Domains

Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: T1932I

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: T1939I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: T1939I

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: T1905I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: T1905I

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

0.5302

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,704 (GRCm39)		probably null	Het
Acp2	G	A	2: 91,036,129 (GRCm39)	R109H	probably damaging	Het
Adamts8	T	C	9: 30,862,688 (GRCm39)	S298P	probably damaging	Het
Anxa7	A	G	14: 20,517,548 (GRCm39)	V157A	probably benign	Het
Arid3b	T	C	9: 57,740,904 (GRCm39)	K181E	probably damaging	Het
Armt1	A	G	10: 4,400,864 (GRCm39)	T204A	possibly damaging	Het
Brip1	A	C	11: 86,043,532 (GRCm39)	V344G	possibly damaging	Het
Ccdc40	C	T	11: 119,153,992 (GRCm39)	S1088L	probably damaging	Het
Ccdc93	A	T	1: 121,403,867 (GRCm39)	H332L	probably benign	Het
Celsr3	A	G	9: 108,706,877 (GRCm39)	D1120G	probably damaging	Het
Cep104	T	A	4: 154,077,985 (GRCm39)	I631N	probably damaging	Het
Col17a1	C	T	19: 47,637,197 (GRCm39)	A1354T	unknown	Het
Cpa2	T	C	6: 30,541,692 (GRCm39)	L10P	probably damaging	Het
Creg2	G	T	1: 39,689,861 (GRCm39)	T83K	probably benign	Het
Ddit3	T	C	10: 127,131,884 (GRCm39)	I144T	probably damaging	Het
Dmxl1	A	G	18: 50,011,292 (GRCm39)	I1150V	possibly damaging	Het
Eprs1	C	T	1: 185,148,071 (GRCm39)	R1278*	probably null	Het
Esco1	A	G	18: 10,575,017 (GRCm39)	V685A	probably damaging	Het
Gid8	C	T	2: 180,358,710 (GRCm39)	A125V	probably damaging	Het
Gin1	A	G	1: 97,710,941 (GRCm39)	D208G	possibly damaging	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Grin2d	T	C	7: 45,503,699 (GRCm39)	I679V	probably damaging	Het
Gsto2	C	A	19: 47,873,176 (GRCm39)	R184S	probably damaging	Het
Hira	T	A	16: 18,770,854 (GRCm39)	H830Q	probably benign	Het
Hmcn1	G	A	1: 150,514,659 (GRCm39)	T3571I	probably benign	Het
Khnyn	T	C	14: 56,131,782 (GRCm39)	V568A	possibly damaging	Het
Kif13a	T	A	13: 46,954,921 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,193,835 (GRCm39)	V161A	probably benign	Het
Larp6	T	A	9: 60,644,850 (GRCm39)	M330K	probably benign	Het
Lhfpl6	A	G	3: 52,950,974 (GRCm39)	R83G	possibly damaging	Het
Mavs	A	G	2: 131,087,489 (GRCm39)	N329S	possibly damaging	Het
Mep1b	T	A	18: 21,221,630 (GRCm39)	N193K	possibly damaging	Het
Msantd5f6	T	A	4: 73,322,468 (GRCm39)	R12*	probably null	Het
Mttp	A	T	3: 137,818,317 (GRCm39)	D380E	probably damaging	Het
Nsun7	A	T	5: 66,453,294 (GRCm39)	R670*	probably null	Het
Obsl1	G	A	1: 75,473,167 (GRCm39)	R1019*	probably null	Het
Or10ak12	A	G	4: 118,666,482 (GRCm39)	V193A	probably damaging	Het
Or5w11	T	C	2: 87,459,212 (GRCm39)	M19T	probably damaging	Het
Phc3	C	T	3: 30,968,271 (GRCm39)	V922I	probably damaging	Het
Pip5kl1	T	C	2: 32,468,951 (GRCm39)	V190A	possibly damaging	Het
Plekhg2	G	T	7: 28,060,278 (GRCm39)	T993N	possibly damaging	Het
Psg26	C	T	7: 18,217,865 (GRCm39)	V18I	probably benign	Het
Slc11a1	A	G	1: 74,419,424 (GRCm39)	Y187C	probably damaging	Het
Smarcd3	A	G	5: 24,798,990 (GRCm39)	S323P	possibly damaging	Het
Spen	G	T	4: 141,199,137 (GRCm39)	Y3163*	probably null	Het
Stx4a	T	A	7: 127,447,633 (GRCm39)	V259D	probably damaging	Het
Synj2	T	C	17: 6,087,941 (GRCm39)	S1331P	probably damaging	Het
Tmprss11c	G	A	5: 86,385,540 (GRCm39)	Q311*	probably null	Het
Tpo	T	A	12: 30,142,738 (GRCm39)	N662I	probably damaging	Het
Trav13d-4	C	A	14: 53,995,350 (GRCm39)	D101E	probably damaging	Het
Trbv14	G	A	6: 41,112,292 (GRCm39)	A30T	probably benign	Het
Unc80	T	C	1: 66,567,144 (GRCm39)	S917P	possibly damaging	Het
Zc3h6	T	A	2: 128,856,319 (GRCm39)	C466*	probably null	Het
Zfp462	T	C	4: 55,011,097 (GRCm39)	V1021A	probably damaging	Het
Zfp51	T	C	17: 21,682,017 (GRCm39)	M72T	probably damaging	Het
Zfp704	C	T	3: 9,674,416 (GRCm39)	E122K	unknown	Het
Zfyve26	T	C	12: 79,334,152 (GRCm39)	K289E	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
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
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'- TGGACTGGTCAATGAAGAAGAGTTC -3'
(R):5'- TCTCGGAGCTTGGCAAGAAG -3'

Sequencing Primer
(F):5'- CAGGTTGAAACGCCGCAG -3'
(R):5'- GCTTGGCAAGAAGGGATGC -3'

Posted On

2021-07-15