Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Kirrel3'

393041

Institutional Source

Beutler Lab

Gene Symbol

Kirrel3

Ensembl Gene

ENSMUSG00000032036

Gene Name

kirre like nephrin family adhesion molecule 3

Synonyms

2900036G11Rik, Neph2, 1500010O20Rik

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34397190-34948012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34924601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 296 (G296W)

Ref Sequence

ENSEMBL: ENSMUSP00000110801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045091] [ENSMUST00000115148] [ENSMUST00000187182] [ENSMUST00000187625] [ENSMUST00000188658] [ENSMUST00000188933] [ENSMUST00000190549]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045091
AA Change: G263W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: G263W

Domain	Start	End	E-Value	Type
IG	21	111	1.35e-9	SMART
IG	122	214	2.56e-1	SMART
Pfam:Ig_2	217	298	2.1e-6	PFAM
IGc2	314	372	1.66e-9	SMART
IG	392	484	1.06e-2	SMART
transmembrane domain	491	513	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
low complexity region	700	717	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115148
AA Change: G296W

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

SMART Domains

Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: G296W

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	54	144	1.35e-9	SMART
IG	155	247	2.56e-1	SMART
Pfam:Ig_3	249	318	7.2e-6	PFAM
IGc2	347	405	1.66e-9	SMART
IG	425	517	1.06e-2	SMART
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	601	614	N/A	INTRINSIC
low complexity region	733	750	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187182
AA Change: G270W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: G270W

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	28	118	1.35e-9	SMART
IG	129	221	2.56e-1	SMART
Pfam:Ig_2	224	305	2.3e-6	PFAM
IGc2	321	379	1.66e-9	SMART
IG	399	491	1.06e-2	SMART
transmembrane domain	510	532	N/A	INTRINSIC
low complexity region	612	625	N/A	INTRINSIC
low complexity region	744	761	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187625
AA Change: G263W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: G263W

Domain	Start	End	E-Value	Type
IG	21	111	1.35e-9	SMART
IG	122	214	2.56e-1	SMART
Pfam:Ig_2	217	298	2.1e-6	PFAM
IGc2	314	372	1.66e-9	SMART
IG	392	484	1.06e-2	SMART
transmembrane domain	491	513	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
low complexity region	700	717	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188658

SMART Domains

Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036

Domain	Start	End	E-Value	Type
Pfam:Ig_2	1	31	1.4e-1	PFAM
IG	40	132	4.5e-5	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188933
AA Change: G263W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: G263W

Domain	Start	End	E-Value	Type
IG	21	111	5.7e-12	SMART
IG	122	214	1.1e-3	SMART
Pfam:Ig_2	217	298	3.7e-5	PFAM
IGc2	314	372	6.8e-12	SMART
IG	392	484	4.5e-5	SMART
transmembrane domain	503	525	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	712	729	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190549
AA Change: G263W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: G263W

Domain	Start	End	E-Value	Type
IG	21	111	5.7e-12	SMART
IG	122	214	1.1e-3	SMART
Pfam:Ig_2	217	298	2.6e-5	PFAM
IGc2	314	372	6.8e-12	SMART
IG	392	484	4.5e-5	SMART
transmembrane domain	491	513	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

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 is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Fbln1	A	G	15: 85,121,872 (GRCm39)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,889,495 (GRCm39)	T827A	probably benign	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Plk2	C	T	13: 110,535,958 (GRCm39)	P554L	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	probably benign	Het

Other mutations in Kirrel3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Kirrel3	APN	9	34,926,549 (GRCm39)	critical splice acceptor site	probably null
IGL01369:Kirrel3	APN	9	34,927,737 (GRCm39)	missense	probably benign	0.07
IGL01837:Kirrel3	APN	9	34,946,224 (GRCm39)	missense	probably damaging	1.00
IGL01950:Kirrel3	APN	9	34,939,625 (GRCm39)	splice site	probably benign
IGL01973:Kirrel3	APN	9	34,927,764 (GRCm39)	missense	probably damaging	1.00
IGL01994:Kirrel3	APN	9	34,931,429 (GRCm39)	missense	possibly damaging	0.71
IGL03184:Kirrel3	APN	9	34,919,052 (GRCm39)	missense	probably damaging	1.00
R0033:Kirrel3	UTSW	9	34,912,259 (GRCm39)	missense	probably benign	0.06
R0033:Kirrel3	UTSW	9	34,912,259 (GRCm39)	missense	probably benign	0.06
R0038:Kirrel3	UTSW	9	34,823,066 (GRCm39)	splice site	probably null
R0038:Kirrel3	UTSW	9	34,823,066 (GRCm39)	splice site	probably null
R0390:Kirrel3	UTSW	9	34,931,459 (GRCm39)	missense	probably damaging	1.00
R0627:Kirrel3	UTSW	9	34,946,470 (GRCm39)	missense	probably damaging	1.00
R0786:Kirrel3	UTSW	9	34,946,161 (GRCm39)	missense	probably damaging	1.00
R0920:Kirrel3	UTSW	9	34,939,648 (GRCm39)	missense	probably damaging	1.00
R0962:Kirrel3	UTSW	9	34,912,293 (GRCm39)	missense	possibly damaging	0.95
R1716:Kirrel3	UTSW	9	34,934,843 (GRCm39)	missense	probably damaging	1.00
R2010:Kirrel3	UTSW	9	34,850,494 (GRCm39)	missense	probably damaging	1.00
R4289:Kirrel3	UTSW	9	34,934,769 (GRCm39)	missense	probably benign	0.44
R4888:Kirrel3	UTSW	9	34,924,601 (GRCm39)	missense	probably damaging	1.00
R4970:Kirrel3	UTSW	9	34,855,735 (GRCm39)	missense	possibly damaging	0.88
R5368:Kirrel3	UTSW	9	34,919,034 (GRCm39)	missense	probably damaging	1.00
R5572:Kirrel3	UTSW	9	34,912,244 (GRCm39)	missense	probably damaging	1.00
R5707:Kirrel3	UTSW	9	34,924,572 (GRCm39)	missense	probably damaging	1.00
R6302:Kirrel3	UTSW	9	34,919,045 (GRCm39)	missense	probably damaging	1.00
R6449:Kirrel3	UTSW	9	34,902,269 (GRCm39)	missense	probably benign
R6908:Kirrel3	UTSW	9	34,924,697 (GRCm39)	missense	possibly damaging	0.86
R6967:Kirrel3	UTSW	9	34,946,202 (GRCm39)	missense	probably damaging	1.00
R7578:Kirrel3	UTSW	9	34,850,408 (GRCm39)	missense	probably damaging	1.00
R7861:Kirrel3	UTSW	9	34,931,419 (GRCm39)	missense	possibly damaging	0.79
R8094:Kirrel3	UTSW	9	34,946,460 (GRCm39)	missense	probably damaging	1.00
R8383:Kirrel3	UTSW	9	34,941,179 (GRCm39)	missense	probably null	0.89
R8494:Kirrel3	UTSW	9	34,902,341 (GRCm39)	missense	probably benign	0.03
R8878:Kirrel3	UTSW	9	34,850,561 (GRCm39)	splice site	probably benign
R8955:Kirrel3	UTSW	9	34,855,738 (GRCm39)	missense	probably damaging	1.00
R9140:Kirrel3	UTSW	9	34,924,596 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTCGACCATGGCTCAAAG -3'
(R):5'- GGAGATGCTGTAACACGCAAC -3'

Sequencing Primer
(F):5'- GGCTCAAAGGCAATCACCTG -3'
(R):5'- GAGTCTAGCTATAGTCTCAGCCAC -3'

Posted On

2016-06-15