Mutagenetix > Incidental Mutations

Incidental Mutation 'R7014:Kirrel2'

545187

Institutional Source

Beutler Lab

Gene Symbol

Kirrel2

Ensembl Gene

ENSMUSG00000036915

Gene Name

kirre like nephrin family adhesion molecule 2

Synonyms

C330019F22Rik, NEPH3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30447534-30457690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30454574 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000039395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045817] [ENSMUST00000126297]

Predicted Effect

probably benign
Transcript: ENSMUST00000045817
AA Change: I200T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: I200T

Domain	Start	End	E-Value	Type
IG	27	117	9.18e-12	SMART
IG	128	219	5.13e-1	SMART
IG_like	230	306	8.06e0	SMART
IGc2	321	379	3.06e-8	SMART
IG_like	401	500	4.65e1	SMART
transmembrane domain	509	531	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	607	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126297

SMART Domains

Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649

Domain	Start	End	E-Value	Type
IG	38	132	1.38e-6	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915
AA Change: I134T

Domain	Start	End	E-Value	Type
IG	27	117	9.18e-12	SMART
IG_like	118	189	5.91e-1	SMART
IG_like	211	287	8.06e0	SMART
IGc2	302	360	3.06e-8	SMART
IG_like	382	481	4.65e1	SMART
transmembrane domain	490	512	N/A	INTRINSIC
low complexity region	528	546	N/A	INTRINSIC
low complexity region	588	610	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170152

SMART Domains

Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,578,773	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,045,942	I264T	probably benign	Het
Arid3a	G	T	10: 79,950,884	M488I	possibly damaging	Het
Auts2	A	G	5: 131,466,123	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,330,962		probably null	Het
Bpifb5	C	A	2: 154,224,956	S43*	probably null	Het
Carhsp1	A	G	16: 8,661,005	V128A	probably benign	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Cdk6	C	G	5: 3,473,152	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,725,134	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,721,443	E225G	probably damaging	Het
Copg1	T	A	6: 87,902,340	L456Q	probably damaging	Het
Ctif	T	A	18: 75,437,208	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,919,493	I917T	probably benign	Het
Cyth1	T	C	11: 118,212,651	D9G	probably benign	Het
Dnajb1	T	C	8: 83,610,255	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,623,378	Y139*	probably null	Het
Fam162a	A	T	16: 36,049,932	V59E	probably damaging	Het
Fam213a	T	C	14: 41,002,494	E71G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmo6	C	G	1: 162,926,308	R112T	probably benign	Het
Gm11639	A	G	11: 104,693,422	T100A	probably benign	Het
Gm17087	T	A	17: 8,566,472	D133V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gm21994	A	T	2: 150,255,262	C82*	probably null	Het
Gm42669	A	G	5: 107,508,276	I802V	probably benign	Het
Gp2	T	C	7: 119,451,645	N288D	probably damaging	Het
Gstm7	C	T	3: 107,926,962	D196N	probably benign	Het
Hsph1	A	T	5: 149,630,400	V201D	probably damaging	Het
Il20ra	T	C	10: 19,712,710	L26P	unknown	Het
Itpr1	T	A	6: 108,431,498		probably null	Het
Kcns3	A	T	12: 11,091,687	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,464,179	Y128H	probably damaging	Het
Klhdc10	T	A	6: 30,450,503	I294N	probably damaging	Het
Map1a	A	C	2: 121,300,239	N512T	probably damaging	Het
March8	C	G	6: 116,403,543	C118W	probably damaging	Het
March8	T	G	6: 116,403,544	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,134,915	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,548,583	Q27L	probably benign	Het
Muc16	T	A	9: 18,658,236	T996S	unknown	Het
Mug1	C	T	6: 121,861,125	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,191		probably null	Het
Olfr1133	A	T	2: 87,645,976	L49Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,871	I41V	probably benign	Het
Olfr1535	A	G	13: 21,555,938	F28S	probably benign	Het
Olfr167	A	T	16: 19,515,456	F60Y	probably benign	Het
Olfr873	T	A	9: 20,300,663	C154*	probably null	Het
Parp9	T	A	16: 35,960,063		probably null	Het
Pbx1	T	A	1: 168,431,380	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,715,422	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,561	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,372,975	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,415,930	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,297,067		probably benign	Het
Pknox2	T	A	9: 36,909,667	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,883,270	I582T	probably damaging	Het
Prtg	T	C	9: 72,891,985	Y766H	possibly damaging	Het
Rabgap1	A	G	2: 37,560,563	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,342,072	N60K	probably damaging	Het
Rnf150	C	T	8: 83,042,663	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,255,932	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,049,427	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,741,959	G223C	probably null	Het
Sema6a	T	A	18: 47,298,217	N138I	probably damaging	Het
Sept5	T	A	16: 18,624,909	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,754,234	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,620,966	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,233,887	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,644,364	I538V	probably benign	Het
Slco4c1	A	T	1: 96,823,781		probably null	Het
Smarcad1	T	C	6: 65,052,670	S81P	probably damaging	Het
Smyd1	T	C	6: 71,238,627	D116G	probably damaging	Het
Themis	T	C	10: 28,789,707	Y589H	probably benign	Het
Trim30d	T	C	7: 104,483,336	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,919	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,053,423	Y405C	probably damaging	Het
Wdfy3	A	G	5: 101,894,909		probably null	Het
Wiz	C	A	17: 32,361,866	A83S	probably damaging	Het
Zmym6	T	A	4: 127,123,544	Y947*	probably null	Het

Other mutations in Kirrel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Kirrel2	APN	7	30453664	missense	probably benign	0.03
IGL02457:Kirrel2	APN	7	30452740	missense	probably damaging	1.00
IGL02609:Kirrel2	APN	7	30448340	missense	probably benign	0.00
R0029:Kirrel2	UTSW	7	30453165	unclassified	probably benign
R0395:Kirrel2	UTSW	7	30450458	missense	possibly damaging	0.68
R0987:Kirrel2	UTSW	7	30448130	missense	probably damaging	1.00
R1511:Kirrel2	UTSW	7	30456498	missense	probably damaging	1.00
R2226:Kirrel2	UTSW	7	30454154	missense	probably damaging	1.00
R4818:Kirrel2	UTSW	7	30449868	missense	probably benign	0.32
R4963:Kirrel2	UTSW	7	30450801	critical splice donor site	probably null
R6918:Kirrel2	UTSW	7	30450814	missense	probably damaging	1.00
R6985:Kirrel2	UTSW	7	30455306	missense	probably damaging	1.00
R6995:Kirrel2	UTSW	7	30455179	missense	probably damaging	1.00
R8254:Kirrel2	UTSW	7	30450376	critical splice donor site	probably null
R8363:Kirrel2	UTSW	7	30453543	missense	probably damaging	0.99
Z1176:Kirrel2	UTSW	7	30453457	missense	probably benign	0.01
Z1177:Kirrel2	UTSW	7	30452746	missense	probably benign	0.34
Z1186:Kirrel2	UTSW	7	30448197	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGCTTTCAGTTCCCAATACC -3'
(R):5'- GTGTGAGGTGTGGTAATAATACAC -3'

Sequencing Primer
(F):5'- GTTCCCAATACCCCAGCGTG -3'
(R):5'- CCAGCACTCAGGAGACTAAG -3'

Posted On

2019-05-13