Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Kirrel2'

542900

Institutional Source

Beutler Lab

Gene Symbol

Kirrel2

Ensembl Gene

ENSMUSG00000036915

Gene Name

kirre like nephrin family adhesion molecule 2

Synonyms

C330019F22Rik, NEPH3

MMRRC Submission

045092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30146959-30157115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30154731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 127 (G127C)

Ref Sequence

ENSEMBL: ENSMUSP00000039395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000045817] [ENSMUST00000126297]

AlphaFold

Q7TSU7

Predicted Effect

probably benign
Transcript: ENSMUST00000006825

SMART Domains

Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	52	146	1.38e-6	SMART
Pfam:C2-set_2	152	242	4.1e-20	PFAM
IG	264	351	9.86e-3	SMART
IG_like	360	452	2.73e1	SMART
IG	464	556	2.99e-2	SMART
IG_like	572	644	8.9e-1	SMART
IG	667	751	1.32e-3	SMART
IG	760	849	7.3e-6	SMART
IGc2	868	941	5.4e-9	SMART
FN3	955	1036	1.01e-11	SMART
transmembrane domain	1078	1100	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045817
AA Change: G127C

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

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: G127C

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

probably benign
Transcript: ENSMUST00000169893

SMART Domains

Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915

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

Meta Mutation Damage Score

0.7735

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin1	A	G	4: 123,630,649 (GRCm39)	*192R	probably null	Het
Ankar	A	C	1: 72,697,641 (GRCm39)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,521,636 (GRCm39)	A20E	unknown	Het
Arhgap1	T	A	2: 91,498,543 (GRCm39)	Y147N	probably damaging	Het
Arid2	T	C	15: 96,268,029 (GRCm39)	V714A	probably benign	Het
Arrdc3	T	C	13: 81,031,776 (GRCm39)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,799,830 (GRCm39)	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,437,095 (GRCm39)	R98G	probably damaging	Het
Capn10	T	C	1: 92,871,146 (GRCm39)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,709,529 (GRCm39)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,309,560 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,460,757 (GRCm39)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,656,378 (GRCm39)	N893S	probably benign	Het
Ctsh	G	A	9: 89,936,657 (GRCm39)	A19T	possibly damaging	Het
Cttn	C	A	7: 144,006,324 (GRCm39)	E214*	probably null	Het
Des	A	G	1: 75,343,431 (GRCm39)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,615,679 (GRCm39)	V109A	probably benign	Het
Dock1	A	G	7: 134,765,132 (GRCm39)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,229,934 (GRCm39)	I2184T	probably benign	Het
Enc1	C	T	13: 97,381,628 (GRCm39)	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,896,108 (GRCm39)	S670P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,201,460 (GRCm39)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,296,957 (GRCm39)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,892,785 (GRCm39)	E744Q	probably null	Het
Gmps	T	A	3: 63,922,960 (GRCm39)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,276,670 (GRCm39)	Y152F	probably damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Herc2	A	G	7: 55,782,228 (GRCm39)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,860,252 (GRCm39)	T14A	probably benign	Het
Insr	T	A	8: 3,211,372 (GRCm39)	M1156L	possibly damaging	Het
Krt10	T	C	11: 99,276,456 (GRCm39)	N65S	possibly damaging	Het
Lrig3	A	G	10: 125,850,738 (GRCm39)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,022,274 (GRCm39)	N306H	probably benign	Het
Map4k3	A	G	17: 80,944,161 (GRCm39)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,322,122 (GRCm39)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,315,594 (GRCm39)	L60S	probably damaging	Het
Muc4	A	T	16: 32,570,817 (GRCm39)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,444,117 (GRCm39)	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,786,432 (GRCm39)	F442L	possibly damaging	Het
Naa35	T	A	13: 59,775,757 (GRCm39)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,531,275 (GRCm39)	V645E	probably damaging	Het
Or52z14	A	G	7: 103,252,875 (GRCm39)	T5A	probably benign	Het
Or5af2	T	C	11: 58,707,939 (GRCm39)	F35S	probably damaging	Het
Otx1	A	T	11: 21,946,615 (GRCm39)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,630,211 (GRCm39)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,017,223 (GRCm39)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,214,643 (GRCm39)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm39)	D354A	probably benign	Het
Prtg	T	G	9: 72,758,783 (GRCm39)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,595,504 (GRCm39)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,958,555 (GRCm39)	S71G	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Shank1	A	G	7: 43,994,337 (GRCm39)	I833V	unknown	Het
Slc35f1	C	A	10: 52,898,007 (GRCm39)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,879,429 (GRCm39)	I36F	probably benign	Het
Sstr4	T	A	2: 148,238,169 (GRCm39)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trat1	A	G	16: 48,574,634 (GRCm39)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,828,075 (GRCm39)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 32,821,074 (GRCm39)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,778,530 (GRCm39)	D7G	probably damaging	Het

Other mutations in Kirrel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Kirrel2	APN	7	30,153,089 (GRCm39)	missense	probably benign	0.03
IGL02457:Kirrel2	APN	7	30,152,165 (GRCm39)	missense	probably damaging	1.00
IGL02609:Kirrel2	APN	7	30,147,765 (GRCm39)	missense	probably benign	0.00
R0029:Kirrel2	UTSW	7	30,152,590 (GRCm39)	unclassified	probably benign
R0395:Kirrel2	UTSW	7	30,149,883 (GRCm39)	missense	possibly damaging	0.68
R0987:Kirrel2	UTSW	7	30,147,555 (GRCm39)	missense	probably damaging	1.00
R1511:Kirrel2	UTSW	7	30,155,923 (GRCm39)	missense	probably damaging	1.00
R2226:Kirrel2	UTSW	7	30,153,579 (GRCm39)	missense	probably damaging	1.00
R4818:Kirrel2	UTSW	7	30,149,293 (GRCm39)	missense	probably benign	0.32
R4963:Kirrel2	UTSW	7	30,150,226 (GRCm39)	critical splice donor site	probably null
R6918:Kirrel2	UTSW	7	30,150,239 (GRCm39)	missense	probably damaging	1.00
R6995:Kirrel2	UTSW	7	30,154,604 (GRCm39)	missense	probably damaging	1.00
R7014:Kirrel2	UTSW	7	30,153,999 (GRCm39)	missense	probably benign	0.01
R8254:Kirrel2	UTSW	7	30,149,801 (GRCm39)	critical splice donor site	probably null
R8363:Kirrel2	UTSW	7	30,152,968 (GRCm39)	missense	probably damaging	0.99
R9061:Kirrel2	UTSW	7	30,150,305 (GRCm39)	missense	probably benign	0.00
R9066:Kirrel2	UTSW	7	30,153,454 (GRCm39)	missense	probably damaging	1.00
R9099:Kirrel2	UTSW	7	30,147,642 (GRCm39)	missense	probably benign	0.07
R9445:Kirrel2	UTSW	7	30,150,260 (GRCm39)	missense	probably damaging	0.97
Z1176:Kirrel2	UTSW	7	30,152,882 (GRCm39)	missense	probably benign	0.01
Z1177:Kirrel2	UTSW	7	30,152,171 (GRCm39)	missense	probably benign	0.34
Z1186:Kirrel2	UTSW	7	30,147,622 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGGTTGCTGAGTCTCAATAATGAAC -3'
(R):5'- TCGTATGAGTGCCAGGCTTC -3'

Sequencing Primer
(F):5'- CAAGAATGACAAAGAGATTTAGACCC -3'
(R):5'- TTCGCAAGCAGGTCTCCGATC -3'

Posted On

2018-11-28