Incidental Mutation 'R4090:Slurp1'
ID 317580
Institutional Source Beutler Lab
Gene Symbol Slurp1
Ensembl Gene ENSMUSG00000022596
Gene Name secreted Ly6/Plaur domain containing 1
Synonyms ARS component B, 1110021N19Rik
MMRRC Submission 040983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4090 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74598493-74599872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74598724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 89 (H89R)
Ref Sequence ENSEMBL: ENSMUSP00000141013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023261] [ENSMUST00000070923] [ENSMUST00000190433]
AlphaFold Q9Z0K7
Predicted Effect probably benign
Transcript: ENSMUST00000023261
SMART Domains Protein: ENSMUSP00000023261
Gene: ENSMUSG00000022596

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LU 23 109 6.93e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000070923
SMART Domains Protein: ENSMUSP00000069692
Gene: ENSMUSG00000056665

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:4HBT_2 54 185 5.8e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190433
AA Change: H89R

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141013
Gene: ENSMUSG00000022596
AA Change: H89R

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
LU 23 109 6.93e-2 SMART
Meta Mutation Damage Score 0.1620 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
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 Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop palmoplantar keratoderma, decreased body weight, and neuromuscular and metabolic phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Apc2 A G 10: 80,141,378 (GRCm39) K268E probably damaging Het
Arhgef2 G C 3: 88,551,185 (GRCm39) R765P probably benign Het
Bptf T C 11: 106,972,349 (GRCm39) K840E probably damaging Het
Carf A G 1: 60,175,506 (GRCm39) R245G possibly damaging Het
Cd36 A G 5: 17,990,718 (GRCm39) probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cplane1 T A 15: 8,241,842 (GRCm39) probably null Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Exoc6 A G 19: 37,560,360 (GRCm39) T126A probably benign Het
Fam83f A T 15: 80,576,393 (GRCm39) N348I possibly damaging Het
Gja8 A G 3: 96,826,468 (GRCm39) V398A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm12789 A T 4: 101,845,526 (GRCm39) T72S possibly damaging Het
Gm1988 A G 7: 38,820,292 (GRCm39) noncoding transcript Het
Gm21370 A G 13: 120,488,489 (GRCm39) V20A probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd17b13 T A 5: 104,113,720 (GRCm39) S245C probably benign Het
Htr1f T C 16: 64,746,324 (GRCm39) K323E probably benign Het
Igkc T C 6: 70,703,442 (GRCm39) probably benign Het
Ksr1 T C 11: 78,918,303 (GRCm39) E535G probably damaging Het
Mlxipl A T 5: 135,161,381 (GRCm39) E433D probably benign Het
Npc1 T C 18: 12,331,219 (GRCm39) probably null Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e29 A G 11: 73,667,667 (GRCm39) L162P probably damaging Het
Or6y1 A G 1: 174,276,500 (GRCm39) T104A probably benign Het
Or7g17 T C 9: 18,768,398 (GRCm39) I159T probably benign Het
Pcdha3 A G 18: 37,081,504 (GRCm39) R749G probably benign Het
Ppme1 A T 7: 99,997,044 (GRCm39) N122K possibly damaging Het
Rasal1 G A 5: 120,813,674 (GRCm39) V657M possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rragd C T 4: 33,007,155 (GRCm39) T161M probably damaging Het
Snap23 A G 2: 120,416,061 (GRCm39) I42V probably benign Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar8a T A 10: 23,953,062 (GRCm39) V222E probably damaging Het
Tmem171 A T 13: 98,829,096 (GRCm39) V18D probably damaging Het
Topors T C 4: 40,260,794 (GRCm39) D830G unknown Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Tubg1 T A 11: 101,015,364 (GRCm39) M270K possibly damaging Het
Vmn1r188 T C 13: 22,272,772 (GRCm39) V242A probably benign Het
Vmn1r19 T A 6: 57,381,720 (GRCm39) I91N probably damaging Het
Vmn2r12 T A 5: 109,239,412 (GRCm39) M384L probably benign Het
Wdr26 T C 1: 181,030,679 (GRCm39) E205G probably damaging Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp398 T A 6: 47,843,159 (GRCm39) C272S probably damaging Het
Zfp975 A G 7: 42,312,298 (GRCm39) V105A probably benign Het
Other mutations in Slurp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0759:Slurp1 UTSW 15 74,598,808 (GRCm39) missense probably damaging 0.97
R3919:Slurp1 UTSW 15 74,598,659 (GRCm39) makesense probably null
R4031:Slurp1 UTSW 15 74,599,336 (GRCm39) missense probably damaging 1.00
R8939:Slurp1 UTSW 15 74,598,763 (GRCm39) missense probably damaging 0.99
R9116:Slurp1 UTSW 15 74,599,450 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACAGTGAGTGACCTGAG -3'
(R):5'- TTGGGCAGATTTAAGATGCAGG -3'

Sequencing Primer
(F):5'- AGTGACCTGAGGCTCAGTG -3'
(R):5'- TTGCAGGAGGGGTTTGAGAAG -3'
Posted On 2015-05-15