Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Nbeal2'

372428

Institutional Source

Beutler Lab

Gene Symbol

Nbeal2

Ensembl Gene

ENSMUSG00000056724

Gene Name

neurobeachin-like 2

Synonyms

1110014F23Rik

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110453857-110483229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110464262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1128 (T1128I)

Ref Sequence

ENSEMBL: ENSMUSP00000128586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133191] [ENSMUST00000149089] [ENSMUST00000167320] [ENSMUST00000196488]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000123996

Predicted Effect

probably benign
Transcript: ENSMUST00000130024

SMART Domains

Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724

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 benign
Transcript: ENSMUST00000133191
AA Change: T1128I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: T1128I

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

noncoding transcript
Transcript: ENSMUST00000138072

Predicted Effect

probably benign
Transcript: ENSMUST00000149089

SMART Domains

Protein: ENSMUSP00000119254
Gene: ENSMUSG00000056724

Domain	Start	End	E-Value	Type
low complexity region	49	77	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
low complexity region	480	488	N/A	INTRINSIC
low complexity region	493	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153960

Predicted Effect

probably benign
Transcript: ENSMUST00000167320
AA Change: T1128I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: T1128I

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: T1101I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: T1101I

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

noncoding transcript
Transcript: ENSMUST00000184024

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Ctsh	A	G	9: 89,936,601 (GRCm39)	E26G	probably benign	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,620,777 (GRCm39)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,183,022 (GRCm39)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
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
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'- GCCTGTGAAAGTGGCTTTAAAG -3'
(R):5'- CTTCTCGGTGGAAGACATGC -3'

Sequencing Primer
(F):5'- CCTGTGAAAGTGGCTTTAAAGTTTCC -3'
(R):5'- AAGACATGCAGGTTGTATTGAAC -3'

Posted On

2016-03-01