Incidental Mutation 'R7578:Kirrel3'
| ID |
586588 |
| 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 |
045663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R7578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34850408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 19
(G19V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045091]
[ENSMUST00000115148]
[ENSMUST00000187182]
[ENSMUST00000187625]
[ENSMUST00000188933]
[ENSMUST00000190549]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045091
AA Change: G12V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: G12V
| 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: G45V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: G45V
| 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: G19V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: G19V
| 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 benign
Transcript: ENSMUST00000187625
AA Change: G12V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: G12V
| 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: ENSMUST00000188933
AA Change: G12V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: G12V
| 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 |
possibly damaging
Transcript: ENSMUST00000190549
AA Change: G12V
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: G12V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,120,343 (GRCm39) |
V165E |
probably damaging |
Het |
| 1700025G04Rik |
T |
G |
1: 151,796,841 (GRCm39) |
T75P |
probably benign |
Het |
| 4930516K23Rik |
T |
C |
7: 103,708,104 (GRCm39) |
E235G |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,251,499 (GRCm39) |
C449R |
probably damaging |
Het |
| Adam24 |
T |
C |
8: 41,133,294 (GRCm39) |
V254A |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Aldh1a1 |
A |
C |
19: 20,595,366 (GRCm39) |
R98S |
probably damaging |
Het |
| Alg9 |
A |
G |
9: 50,700,835 (GRCm39) |
I202V |
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,885,789 (GRCm39) |
E162K |
probably damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,128 (GRCm39) |
T268A |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,720,834 (GRCm39) |
V354I |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,896 (GRCm39) |
T204A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,544 (GRCm39) |
I746K |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,243,186 (GRCm39) |
T1063M |
probably benign |
Het |
| Cherp |
G |
A |
8: 73,218,102 (GRCm39) |
R543C |
|
Het |
| Cldn20 |
A |
G |
17: 3,583,274 (GRCm39) |
D149G |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,083,807 (GRCm39) |
Q474R |
probably benign |
Het |
| Cp |
A |
G |
3: 20,043,262 (GRCm39) |
T1017A |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,499,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,915,261 (GRCm39) |
V93M |
probably damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,787,328 (GRCm39) |
M183L |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,573,205 (GRCm39) |
L915I |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,333,645 (GRCm39) |
E146G |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,293 (GRCm39) |
S283G |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,832,296 (GRCm39) |
Y1543F |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,275 (GRCm39) |
|
probably null |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gjd3 |
A |
G |
11: 98,873,301 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm49368 |
T |
A |
7: 127,711,430 (GRCm39) |
C711* |
probably null |
Het |
| Gtf3c2 |
A |
G |
5: 31,330,341 (GRCm39) |
S210P |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,784,548 (GRCm39) |
Y1404C |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,507,372 (GRCm39) |
D128E |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,578,219 (GRCm39) |
D113E |
probably benign |
Het |
| Kcnd3 |
A |
G |
3: 105,366,933 (GRCm39) |
M268V |
probably benign |
Het |
| Klf17 |
T |
G |
4: 117,617,916 (GRCm39) |
Y147S |
possibly damaging |
Het |
| Leng1 |
C |
T |
7: 3,668,382 (GRCm39) |
R22H |
probably damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,876,037 (GRCm39) |
Y233* |
probably null |
Het |
| Lyzl6 |
A |
G |
11: 103,525,832 (GRCm39) |
V96A |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,302,644 (GRCm39) |
T797A |
possibly damaging |
Het |
| Nuf2 |
G |
T |
1: 169,332,097 (GRCm39) |
H399Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,623 (GRCm39) |
V766A |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,940,244 (GRCm39) |
D307E |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,266 (GRCm39) |
M109K |
possibly damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,544 (GRCm39) |
I103T |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,121 (GRCm39) |
Y169H |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,417,585 (GRCm39) |
D2522G |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,271 (GRCm39) |
D433G |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,691 (GRCm39) |
S12P |
probably benign |
Het |
| Ptpn23 |
T |
A |
9: 110,216,676 (GRCm39) |
Q1060L |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,574,914 (GRCm39) |
N710K |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,910,943 (GRCm39) |
V234A |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,414,612 (GRCm39) |
Q37R |
probably damaging |
Het |
| Slc35e3 |
A |
T |
10: 117,576,484 (GRCm39) |
S230T |
probably damaging |
Het |
| Slc39a2 |
T |
C |
14: 52,132,873 (GRCm39) |
V272A |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,181 (GRCm39) |
Y677F |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,301,213 (GRCm39) |
Y42H |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,774,782 (GRCm39) |
F102L |
probably benign |
Het |
| Sstr3 |
T |
C |
15: 78,424,717 (GRCm39) |
E10G |
probably benign |
Het |
| Tekt3 |
A |
T |
11: 62,985,486 (GRCm39) |
I431F |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,855,025 (GRCm39) |
R778H |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,110 (GRCm39) |
V1875D |
probably damaging |
Het |
| Vmn2r29 |
A |
C |
7: 7,234,441 (GRCm39) |
I815S |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,552 (GRCm39) |
K577* |
probably null |
Het |
| Vps26c |
A |
C |
16: 94,299,928 (GRCm39) |
N275K |
probably damaging |
Het |
| Yes1 |
G |
A |
5: 32,802,430 (GRCm39) |
R115Q |
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 |
|
R5121:Kirrel3
|
UTSW |
9 |
34,924,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTTCATCACTGGGTCAGCAC -3'
(R):5'- CAGTTATGAGAGGCAGCGTC -3'
Sequencing Primer
(F):5'- TTCATCACTGGGTCAGCACTAAGG -3'
(R):5'- TATGAGAGGCAGCGTCTGTAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation