Mutagenetix > Incidental Mutation

Incidental Mutation 'R2226:Kirrel2'

239726

Institutional Source

Beutler Lab

Gene Symbol

Kirrel2

Ensembl Gene

ENSMUSG00000036915

Gene Name

kirre like nephrin family adhesion molecule 2

Synonyms

C330019F22Rik, NEPH3

MMRRC Submission

040227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30146959-30157115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30153579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 260 (K260R)

Ref Sequence

ENSEMBL: ENSMUSP00000039395 (fasta)

Gene Model

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

AlphaFold

Q7TSU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000045817
AA Change: K260R

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

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: K260R

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

noncoding transcript
Transcript: ENSMUST00000117923

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

noncoding transcript
Transcript: ENSMUST00000140565

Predicted Effect

unknown
Transcript: ENSMUST00000169893
AA Change: K194R

SMART Domains

Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915
AA Change: K194R

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	T	4: 144,190,295 (GRCm39)	V2E	possibly damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Ascc3	A	G	10: 50,630,148 (GRCm39)	T1746A	probably benign	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Atp1b3	A	G	9: 96,225,329 (GRCm39)	F113S	probably damaging	Het
Cacna1h	T	C	17: 25,604,917 (GRCm39)	N1132S	probably benign	Het
Ccdc150	A	G	1: 54,404,084 (GRCm39)	I943V	probably null	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Efhb	A	T	17: 53,769,457 (GRCm39)		probably null	Het
Elfn2	A	G	15: 78,558,443 (GRCm39)	W35R	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Epha2	G	A	4: 141,048,548 (GRCm39)	R569H	probably damaging	Het
Gabrg2	A	T	11: 41,862,735 (GRCm39)	F116L	probably damaging	Het
Gm11555	T	G	11: 99,540,585 (GRCm39)	R141S	unknown	Het
Hectd3	T	C	4: 116,852,886 (GRCm39)	I96T	possibly damaging	Het
Hnrnpul2	T	A	19: 8,802,349 (GRCm39)	N405K	probably damaging	Het
Iigp1	A	T	18: 60,522,960 (GRCm39)	K26I	possibly damaging	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Krt19	T	C	11: 100,032,401 (GRCm39)	E260G	probably damaging	Het
Marchf7	A	G	2: 60,060,190 (GRCm39)	R106G	probably benign	Het
Mthfd2l	G	T	5: 91,096,693 (GRCm39)	E105*	probably null	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Ndufaf5	T	C	2: 140,030,780 (GRCm39)	V222A	probably benign	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Nsun7	T	A	5: 66,418,562 (GRCm39)	Y97*	probably null	Het
Nxph3	T	C	11: 95,404,990 (GRCm39)	Y17C	probably benign	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or4k1	A	G	14: 50,378,076 (GRCm39)	S7P	probably damaging	Het
Or51a5	A	G	7: 102,771,115 (GRCm39)	M292T	probably benign	Het
Or5aq1	A	C	2: 86,966,590 (GRCm39)	V25G	possibly damaging	Het
Or7g19	A	T	9: 18,856,177 (GRCm39)	I78F	probably damaging	Het
P2rx2	A	G	5: 110,490,745 (GRCm39)	F26S	probably damaging	Het
Pank1	A	T	19: 34,804,763 (GRCm39)	L131Q	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Pkhd1l1	T	C	15: 44,376,188 (GRCm39)	I950T	possibly damaging	Het
Ppwd1	A	G	13: 104,353,753 (GRCm39)	L335P	probably damaging	Het
Ptch1	A	G	13: 63,661,485 (GRCm39)	S1218P	probably damaging	Het
Ptpn4	C	T	1: 119,610,515 (GRCm39)	R664Q	probably damaging	Het
Semp2l1	A	T	1: 32,584,934 (GRCm39)	H325Q	probably damaging	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Sgsm3	A	G	15: 80,888,069 (GRCm39)	E53G	probably damaging	Het
Slc22a19	C	T	19: 7,661,215 (GRCm39)	V320M	possibly damaging	Het
Slc25a33	A	T	4: 149,838,306 (GRCm39)	I122N	probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Thoc2l	T	A	5: 104,667,286 (GRCm39)	Y603N	probably damaging	Het
Ttc12	A	G	9: 49,353,135 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	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
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
R6985:Kirrel2	UTSW	7	30,154,731 (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'- TTCGATCTTGTAACACCGCC -3'
(R):5'- CAATGGTGACTCTGTCTGCTG -3'

Sequencing Primer
(F):5'- AACCCAGTTCTACACCTGTCCTAG -3'
(R):5'- GTGACTCTGTCTGCTGAGCCC -3'

Posted On

2014-10-15