Incidental Mutation 'IGL03342:Grm1'
ID417266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grm1
Ensembl Gene ENSMUSG00000019828
Gene Nameglutamate receptor, metabotropic 1
SynonymsGrm1, Gprc1a, mGluR1, nmf373, rcw, 4930455H15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL03342
Quality Score
Status
Chromosome10
Chromosomal Location10686059-11082356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 11079971 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 190 (I190L)
Ref Sequence ENSEMBL: ENSMUSP00000101190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
Predicted Effect probably benign
Transcript: ENSMUST00000044306
AA Change: I190L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: I190L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 1.1e-94 PFAM
Pfam:Peripla_BP_6 151 340 1.4e-10 PFAM
Pfam:NCD3G 521 571 5.5e-16 PFAM
Pfam:7tm_3 604 837 2.4e-55 PFAM
low complexity region 969 975 N/A INTRINSIC
low complexity region 983 993 N/A INTRINSIC
low complexity region 1013 1033 N/A INTRINSIC
low complexity region 1071 1088 N/A INTRINSIC
low complexity region 1093 1109 N/A INTRINSIC
low complexity region 1126 1136 N/A INTRINSIC
GluR_Homer-bdg 1149 1199 6.85e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105560
AA Change: I190L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: I190L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 2e-92 PFAM
Pfam:Peripla_BP_6 152 347 2.7e-12 PFAM
Pfam:NCD3G 520 571 2.7e-19 PFAM
Pfam:7tm_3 602 838 3.2e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105561
AA Change: I190L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: I190L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 2e-92 PFAM
Pfam:Peripla_BP_6 152 347 2.7e-12 PFAM
Pfam:NCD3G 520 571 2.7e-19 PFAM
Pfam:7tm_3 602 838 3.2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156826
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,287,691 T1152M possibly damaging Het
Abcg2 G T 6: 58,665,135 R136I probably damaging Het
Acap2 A G 16: 31,105,492 V641A probably damaging Het
Afg3l2 A T 18: 67,407,320 D706E probably benign Het
Bbs1 A T 19: 4,897,593 L311Q probably damaging Het
Cacna1e A G 1: 154,466,944 probably null Het
Car2 A T 3: 14,895,569 D129V probably benign Het
Catsper2 T C 2: 121,406,736 I228V probably damaging Het
Cdhr3 C A 12: 33,051,055 R452M probably benign Het
Chrm1 A T 19: 8,679,308 Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 probably benign Het
Coa7 A G 4: 108,332,229 D42G probably damaging Het
Ctsz T C 2: 174,429,140 Y187C possibly damaging Het
Cxcr6 C T 9: 123,810,407 Q165* probably null Het
Cyp3a11 G A 5: 145,855,117 P489S probably damaging Het
Cyp4f15 A T 17: 32,697,936 I276F probably damaging Het
Dsg1b T A 18: 20,409,460 M1008K probably benign Het
Dsg4 T A 18: 20,451,823 I198N probably damaging Het
Dtymk C A 1: 93,794,819 E87D probably benign Het
Dysf T A 6: 84,190,872 D1749E probably benign Het
Dzip3 G T 16: 48,929,623 Q1050K probably damaging Het
Echs1 C T 7: 140,110,113 probably benign Het
Enc1 T A 13: 97,246,470 I496N possibly damaging Het
Epc2 A T 2: 49,536,646 Y139F probably benign Het
Exo1 A T 1: 175,892,127 N246I probably benign Het
Flg2 A G 3: 93,201,235 K190R probably damaging Het
Gm5424 A T 10: 62,072,192 noncoding transcript Het
Gpbp1l1 A C 4: 116,574,543 T133P probably benign Het
Gpr155 A G 2: 73,349,678 F146S probably damaging Het
Hif3a C T 7: 17,041,122 R515H possibly damaging Het
Kdm5b G A 1: 134,602,576 D442N probably benign Het
Manba A T 3: 135,517,987 I212F possibly damaging Het
Map3k13 A G 16: 21,892,231 E88G possibly damaging Het
Mapk7 A G 11: 61,491,390 L163P probably damaging Het
Med1 A T 11: 98,189,180 probably null Het
Mtrf1 C T 14: 79,415,871 probably benign Het
Mtrf1 T A 14: 79,415,872 probably null Het
Mtrf1 A G 14: 79,415,980 D365G possibly damaging Het
Myadm C T 7: 3,296,887 T55I possibly damaging Het
Nlgn1 A T 3: 26,133,262 I158N probably damaging Het
Nlrc4 A G 17: 74,445,318 L690P probably damaging Het
Nlrp1a A T 11: 71,122,791 D544E probably benign Het
Nlrp2 A T 7: 5,317,483 L20Q probably damaging Het
Olfr1053 A T 2: 86,315,235 I17N possibly damaging Het
Olfr1504 A G 19: 13,887,437 Y258H probably damaging Het
Olfr390 T A 11: 73,787,483 S182T probably benign Het
Padi3 G A 4: 140,810,598 Q4* probably null Het
Pfkl A T 10: 78,005,475 I13K possibly damaging Het
Pinx1 A G 14: 63,919,569 D315G probably benign Het
Prickle3 A G X: 7,663,496 D47G probably benign Het
Psmd10 A T X: 140,956,654 V5E probably damaging Het
Rasgrf2 C A 13: 91,987,979 V605F probably damaging Het
Smarca1 G T X: 47,892,269 A84D probably damaging Het
Sp2 A G 11: 96,961,762 V112A probably damaging Het
Srgap3 G A 6: 112,775,687 R279C probably damaging Het
Ssfa2 G A 2: 79,660,452 M971I probably damaging Het
Trav21-dv12 T C 14: 53,876,044 L10P unknown Het
Vmn1r236 A T 17: 21,286,974 H118L probably benign Het
Vmn2r120 A G 17: 57,509,372 M661T probably benign Het
Vmn2r17 A T 5: 109,427,916 I218F probably damaging Het
Vmn2r41 G T 7: 8,138,683 A594D probably damaging Het
Zc2hc1a A G 3: 7,524,223 E103G possibly damaging Het
Zfp62 G T 11: 49,215,471 G130* probably null Het
Other mutations in Grm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Grm1 APN 10 10720039 missense probably benign 0.01
IGL02078:Grm1 APN 10 10689610 missense probably benign 0.02
IGL02156:Grm1 APN 10 10719976 missense probably damaging 0.99
IGL02476:Grm1 APN 10 10689453 missense probably benign 0.29
IGL02498:Grm1 APN 10 10719979 missense probably damaging 1.00
IGL02621:Grm1 APN 10 10689011 nonsense probably null
IGL03192:Grm1 APN 10 11079916 missense possibly damaging 0.66
dewey UTSW 10 10719595 missense probably damaging 1.00
Dingus UTSW 10 10719967 missense probably benign 0.06
donald UTSW 10 10741508 nonsense probably null
jim UTSW 10 10719805 missense probably damaging 1.00
lightness UTSW 10 11079958 missense probably damaging 1.00
IGL02796:Grm1 UTSW 10 10689667 missense probably benign
R0294:Grm1 UTSW 10 11080399 missense probably damaging 1.00
R0525:Grm1 UTSW 10 10719209 splice site probably benign
R0554:Grm1 UTSW 10 10719923 missense probably benign 0.01
R1184:Grm1 UTSW 10 10720034 missense probably benign 0.40
R1319:Grm1 UTSW 10 10689398 missense probably benign 0.05
R1403:Grm1 UTSW 10 11080135 missense probably benign 0.00
R1403:Grm1 UTSW 10 11080135 missense probably benign 0.00
R1467:Grm1 UTSW 10 10719958 missense probably damaging 1.00
R1467:Grm1 UTSW 10 10719958 missense probably damaging 1.00
R1494:Grm1 UTSW 10 10689706 missense probably benign 0.04
R1589:Grm1 UTSW 10 10719967 missense probably benign 0.06
R1615:Grm1 UTSW 10 10741508 nonsense probably null
R1720:Grm1 UTSW 10 10746794 splice site probably null
R1738:Grm1 UTSW 10 10936419 missense probably damaging 1.00
R1763:Grm1 UTSW 10 11079866 missense possibly damaging 0.47
R1774:Grm1 UTSW 10 11079866 missense possibly damaging 0.47
R2041:Grm1 UTSW 10 10746603 missense probably damaging 0.98
R2092:Grm1 UTSW 10 10689225 missense probably benign 0.00
R2198:Grm1 UTSW 10 10782776 missense probably damaging 1.00
R2297:Grm1 UTSW 10 11080414 missense probably benign 0.03
R2333:Grm1 UTSW 10 10719346 missense probably damaging 0.98
R2333:Grm1 UTSW 10 10719619 missense probably benign 0.31
R2914:Grm1 UTSW 10 11079857 missense probably benign 0.07
R3105:Grm1 UTSW 10 11079857 missense probably benign 0.07
R3106:Grm1 UTSW 10 11079857 missense probably benign 0.07
R3705:Grm1 UTSW 10 10782729 missense possibly damaging 0.95
R3931:Grm1 UTSW 10 10719878 missense probably benign 0.44
R4810:Grm1 UTSW 10 10782694 missense probably damaging 1.00
R4892:Grm1 UTSW 10 10719587 missense possibly damaging 0.81
R4938:Grm1 UTSW 10 10936513 missense probably damaging 1.00
R4947:Grm1 UTSW 10 10782633 missense probably damaging 1.00
R4966:Grm1 UTSW 10 10719665 nonsense probably null
R5152:Grm1 UTSW 10 11079875 missense probably benign 0.13
R5283:Grm1 UTSW 10 10733192 missense possibly damaging 0.70
R5317:Grm1 UTSW 10 10746699 missense possibly damaging 0.77
R5374:Grm1 UTSW 10 11080442 missense probably benign 0.14
R5428:Grm1 UTSW 10 10719563 missense probably damaging 1.00
R5604:Grm1 UTSW 10 10746735 missense probably damaging 1.00
R5894:Grm1 UTSW 10 11080255 missense probably damaging 1.00
R5896:Grm1 UTSW 10 11080550 utr 5 prime probably benign
R5899:Grm1 UTSW 10 10689348 missense probably benign
R6032:Grm1 UTSW 10 10719805 missense probably damaging 1.00
R6032:Grm1 UTSW 10 10719805 missense probably damaging 1.00
R6139:Grm1 UTSW 10 10746331 intron probably benign
R6144:Grm1 UTSW 10 11079896 missense probably benign 0.08
R6208:Grm1 UTSW 10 10719946 missense probably damaging 1.00
R6976:Grm1 UTSW 10 10689180 missense probably benign 0.00
R7027:Grm1 UTSW 10 10719595 missense probably damaging 1.00
R7079:Grm1 UTSW 10 11079958 missense probably damaging 1.00
R7286:Grm1 UTSW 10 10689696 missense probably benign 0.19
R7352:Grm1 UTSW 10 10719493 missense probably damaging 1.00
R7484:Grm1 UTSW 10 10746659 missense probably benign 0.06
R7838:Grm1 UTSW 10 11080352 missense probably benign 0.02
R7921:Grm1 UTSW 10 11080352 missense probably benign 0.02
X0002:Grm1 UTSW 10 10936513 missense probably damaging 1.00
Posted On2016-08-02