Mutagenetix > Incidental Mutation

Incidental Mutation 'R9099:Kirrel2'

691539

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

Essential gene?

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

Stock #

R9099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30146959-30157115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30147642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 669 (T669S)

Ref Sequence

ENSEMBL: ENSMUSP00000039395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006828] [ENSMUST00000045817]

AlphaFold

Q7TSU7

Predicted Effect

probably benign
Transcript: ENSMUST00000006828

SMART Domains

Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
A4_EXTRA	46	211	1.72e-114	SMART
low complexity region	234	247	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
Pfam:APP_E2	289	471	9.3e-72	PFAM
Pfam:APP_amyloid	600	651	9.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045817
AA Change: T669S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: T669S

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

SMART Domains

Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915
AA Change: T143S

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (61/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,871,708 (GRCm39)	M90K	probably damaging	Het
Actn2	T	C	13: 12,303,516 (GRCm39)	D428G	probably damaging	Het
Arrb1	T	C	7: 99,243,836 (GRCm39)	V262A	probably damaging	Het
Bok	A	G	1: 93,622,661 (GRCm39)	I102V		Het
C87436	T	A	6: 86,439,567 (GRCm39)	F419L	probably damaging	Het
Capn15	A	G	17: 26,192,141 (GRCm39)	C34R	probably benign	Het
Ccdc8	T	A	7: 16,728,800 (GRCm39)	Y96*	probably null	Het
Cd274	T	A	19: 29,357,771 (GRCm39)	C154*	probably null	Het
Cfap251	A	G	5: 123,418,082 (GRCm39)		probably benign	Het
Ckap4	A	T	10: 84,369,402 (GRCm39)	L110Q	probably damaging	Het
Col26a1	A	T	5: 136,777,202 (GRCm39)	D335E	probably benign	Het
Crybg1	C	T	10: 43,874,844 (GRCm39)	V755I	probably benign	Het
Dhx38	A	T	8: 110,282,783 (GRCm39)	Y628N	probably damaging	Het
Dnah12	A	T	14: 26,492,325 (GRCm39)	K1155M	probably benign	Het
Ei24	A	G	9: 36,697,270 (GRCm39)	F153L	probably damaging	Het
Erg	T	A	16: 95,178,188 (GRCm39)	E246D	probably benign	Het
Exoc6b	T	C	6: 84,982,000 (GRCm39)	N99D	possibly damaging	Het
Fam222b	G	T	11: 78,046,020 (GRCm39)	R527L	probably damaging	Het
Fam83h	T	C	15: 75,875,135 (GRCm39)	Y734C	probably damaging	Het
Fbxo43	T	C	15: 36,162,619 (GRCm39)	E196G	possibly damaging	Het
Gata5	G	A	2: 179,976,131 (GRCm39)	P11L	possibly damaging	Het
Gbp3	A	T	3: 142,271,048 (GRCm39)	S151C	probably benign	Het
Gli3	T	C	13: 15,901,320 (GRCm39)	L1569P	probably damaging	Het
Helz	G	A	11: 107,523,041 (GRCm39)	V742M	probably damaging	Het
Ifi27l2b	A	T	12: 103,418,114 (GRCm39)	N175K	unknown	Het
Itga1	A	T	13: 115,185,856 (GRCm39)	Y49N	probably damaging	Het
Kcnk2	T	C	1: 188,991,072 (GRCm39)	T167A	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrit2	A	T	14: 36,790,812 (GRCm39)	T164S	possibly damaging	Het
Lrriq1	A	G	10: 103,051,864 (GRCm39)	V296A	probably damaging	Het
Malsu1	C	T	6: 49,050,731 (GRCm39)		probably benign	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Nfs1	C	T	2: 155,968,934 (GRCm39)	G380E	probably damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Nup98	T	A	7: 101,844,173 (GRCm39)	N54I	probably damaging	Het
Or7g21	C	T	9: 19,032,890 (GRCm39)	P210L	probably benign	Het
Or8g22	A	T	9: 38,958,026 (GRCm39)	C230S	probably benign	Het
Or8g53	A	G	9: 39,683,514 (GRCm39)	I194T		Het
Otoa	T	A	7: 120,739,055 (GRCm39)	F755I	probably benign	Het
P4htm	A	T	9: 108,460,911 (GRCm39)	M187K	probably benign	Het
Phldb3	C	T	7: 24,323,727 (GRCm39)	R453C	probably benign	Het
Pkd1l1	C	T	11: 8,922,986 (GRCm39)	A94T		Het
Pkp1	A	G	1: 135,805,429 (GRCm39)	F669S	probably benign	Het
Prl8a2	C	G	13: 27,536,793 (GRCm39)	Y138*	probably null	Het
Prl8a2	T	A	13: 27,536,794 (GRCm39)	Y139N	probably benign	Het
Rtn4r	T	A	16: 17,969,068 (GRCm39)	N165K	probably benign	Het
Scaper	G	T	9: 55,669,616 (GRCm39)	D353E	probably damaging	Het
Scn4a	G	T	11: 106,211,000 (GRCm39)	D1672E	probably damaging	Het
She	A	G	3: 89,739,078 (GRCm39)	S90G	probably benign	Het
Shmt2	A	T	10: 127,355,962 (GRCm39)	D130E	possibly damaging	Het
Slc2a12	T	A	10: 22,569,923 (GRCm39)	I538K	possibly damaging	Het
Snx29	T	A	16: 11,478,435 (GRCm39)	W322R	probably damaging	Het
Spp1	A	G	5: 104,588,387 (GRCm39)	D263G	probably benign	Het
Srek1ip1	T	C	13: 104,973,964 (GRCm39)	S124P	possibly damaging	Het
Tcp10b	C	T	17: 13,280,656 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,364,600 (GRCm39)	F256S	probably damaging	Het
Tpte	T	C	8: 22,845,497 (GRCm39)	Y516H		Het
Trem1	C	A	17: 48,544,271 (GRCm39)	Q99K	possibly damaging	Het
Umodl1	C	T	17: 31,178,147 (GRCm39)	P41L	probably benign	Het
Upp2	T	C	2: 58,457,542 (GRCm39)		probably null	Het
Zfand1	A	T	3: 10,406,148 (GRCm39)	M181K	probably damaging	Het
Zfp292	T	C	4: 34,809,228 (GRCm39)	E1277G	possibly damaging	Het
Zfp458	G	T	13: 67,405,696 (GRCm39)	P248T	probably damaging	Het
Zfp667	T	A	7: 6,308,322 (GRCm39)	M330K	probably benign	Het
Zfp827	A	G	8: 79,917,107 (GRCm39)	T561A		Het
Zfp947	C	T	17: 22,364,855 (GRCm39)	G273D	probably benign	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
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
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'- TTCTGACTCCCCAGAAATCTG -3'
(R):5'- CAACGGTTACTACAGGGTTCG -3'

Sequencing Primer
(F):5'- TCTGGACAACACACTATATGGC -3'
(R):5'- TTAGCCTTGGGGAAGCTCC -3'

Posted On

2021-12-30