Incidental Mutation 'IGL02445:Prss12'
ID293560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss12
Ensembl Gene ENSMUSG00000027978
Gene Nameprotease, serine 12 neurotrypsin (motopsin)
Synonymsmotopsin, Bssp-3
Accession Numbers

Genbank: NM_008939.2

Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL02445
Quality Score
Status
Chromosome3
Chromosomal Location123446913-123506597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123487020 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 451 (D451E)
Ref Sequence ENSEMBL: ENSMUSP00000029603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029603]
Predicted Effect probably damaging
Transcript: ENSMUST00000029603
AA Change: D451E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: D451E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 23 43 N/A INTRINSIC
low complexity region 45 64 N/A INTRINSIC
KR 83 159 2.07e-21 SMART
SR 166 266 4.68e-57 SMART
SR 273 372 9.67e-50 SMART
SR 386 486 3.55e-57 SMART
Tryp_SPc 516 755 6.38e-91 SMART
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 member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity and increased anxiety. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T A 8: 84,159,508 M31K probably benign Het
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Ddx19b C A 8: 111,008,824 V402L probably damaging Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Nap1l3 A T X: 122,396,055 V322D probably damaging Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr126 A T 17: 37,851,117 H175L probably damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Papolb G A 5: 142,528,725 H388Y probably benign Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Rhd A T 4: 134,884,170 M214L possibly damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging Het
Other mutations in Prss12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Prss12 APN 3 123486949 splice site probably benign
IGL01090:Prss12 APN 3 123482739 missense possibly damaging 0.85
IGL01609:Prss12 APN 3 123482834 missense probably damaging 1.00
IGL02406:Prss12 APN 3 123505474 missense possibly damaging 0.81
IGL02928:Prss12 APN 3 123487156 missense possibly damaging 0.51
IGL02970:Prss12 APN 3 123482762 missense probably benign 0.03
IGL03116:Prss12 APN 3 123506276 missense probably benign
IGL03149:Prss12 APN 3 123505387 missense probably benign 0.00
nerd UTSW 3 123447384 missense probably benign 0.31
twerp UTSW 3 123482774 missense probably damaging 1.00
F5426:Prss12 UTSW 3 123506472 missense probably damaging 1.00
P4717OSA:Prss12 UTSW 3 123447618 missense probably damaging 1.00
PIT4576001:Prss12 UTSW 3 123487115 missense probably damaging 1.00
R0116:Prss12 UTSW 3 123482774 missense probably damaging 1.00
R0528:Prss12 UTSW 3 123482796 missense probably benign 0.00
R0762:Prss12 UTSW 3 123485504 missense probably damaging 1.00
R1051:Prss12 UTSW 3 123485525 missense probably null 0.99
R1916:Prss12 UTSW 3 123506495 missense probably benign 0.07
R2185:Prss12 UTSW 3 123487144 missense probably benign 0.01
R2389:Prss12 UTSW 3 123487021 missense possibly damaging 0.63
R2938:Prss12 UTSW 3 123486976 missense probably benign 0.00
R3118:Prss12 UTSW 3 123505327 missense possibly damaging 0.92
R3119:Prss12 UTSW 3 123505327 missense possibly damaging 0.92
R4080:Prss12 UTSW 3 123485485 missense probably benign 0.44
R4161:Prss12 UTSW 3 123485527 nonsense probably null
R4997:Prss12 UTSW 3 123447208 missense probably benign 0.01
R5291:Prss12 UTSW 3 123505463 missense probably damaging 0.98
R5597:Prss12 UTSW 3 123464740 missense probably benign 0.18
R5941:Prss12 UTSW 3 123505501 missense probably benign 0.01
R6005:Prss12 UTSW 3 123482768 missense probably benign 0.00
R6119:Prss12 UTSW 3 123489609 missense possibly damaging 0.64
R6430:Prss12 UTSW 3 123479594 missense probably damaging 1.00
R6492:Prss12 UTSW 3 123447399 missense probably benign
R6864:Prss12 UTSW 3 123447384 missense probably benign 0.31
R7334:Prss12 UTSW 3 123487131 missense probably benign
R7492:Prss12 UTSW 3 123482776 nonsense probably null
R7669:Prss12 UTSW 3 123447396 missense probably benign
R7898:Prss12 UTSW 3 123506496 missense possibly damaging 0.55
Posted On2015-04-16