Incidental Mutation 'R9561:Raph1'
ID 720985
Institutional Source Beutler Lab
Gene Symbol Raph1
Ensembl Gene ENSMUSG00000026014
Gene Name Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
Synonyms C730009O10Rik, lamellipodin, 9430025M21Rik, Lpd
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R9561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 60521451-60606263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60564887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 200 (E200G)
Ref Sequence ENSEMBL: ENSMUSP00000120638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027168] [ENSMUST00000090293] [ENSMUST00000140485] [ENSMUST00000142258]
AlphaFold F2Z3U3
Predicted Effect possibly damaging
Transcript: ENSMUST00000027168
AA Change: E200G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: E200G

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
RA 322 408 1.63e-13 SMART
PH 450 560 3.38e-11 SMART
low complexity region 581 604 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090293
AA Change: E200G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: E200G

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
RA 322 408 1.63e-13 SMART
PH 450 560 3.38e-11 SMART
low complexity region 581 604 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000140485
AA Change: E200G
SMART Domains Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: E200G

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
RA 270 356 1.63e-13 SMART
PH 398 508 3.38e-11 SMART
low complexity region 529 552 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000142258
AA Change: E200G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120638
Gene: ENSMUSG00000026014
AA Change: E200G

DomainStartEndE-ValueType
low complexity region 202 212 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,680,980 (GRCm39) I106V possibly damaging Het
Aars1 C A 8: 111,763,615 (GRCm39) F18L probably damaging Het
Abca7 C T 10: 79,837,535 (GRCm39) T473I probably damaging Het
Ap1m2 A T 9: 21,209,524 (GRCm39) I384N probably damaging Het
Atg16l2 G A 7: 100,948,248 (GRCm39) Q99* probably null Het
Bptf A T 11: 106,964,954 (GRCm39) Y1413* probably null Het
Cat T C 2: 103,307,250 (GRCm39) T28A probably damaging Het
Ccdc65 T A 15: 98,620,759 (GRCm39) V418D probably benign Het
Cd226 A C 18: 89,265,444 (GRCm39) I241L probably benign Het
Crybg1 A G 10: 43,873,428 (GRCm39) S1227P probably benign Het
Csn2 C T 5: 87,842,794 (GRCm39) A78T probably benign Het
Cyp21a1 T A 17: 35,021,652 (GRCm39) H305L possibly damaging Het
Ddx55 A G 5: 124,706,707 (GRCm39) E572G possibly damaging Het
Dguok A G 6: 83,467,548 (GRCm39) Y100H probably damaging Het
Dync1h1 T A 12: 110,615,533 (GRCm39) S2955R probably damaging Het
Etfbkmt A T 6: 149,045,640 (GRCm39) probably benign Het
Fam222a T A 5: 114,749,347 (GRCm39) I181N probably damaging Het
Fam24b T C 7: 130,927,877 (GRCm39) D104G probably benign Het
Fbn2 A T 18: 58,181,611 (GRCm39) C1883* probably null Het
Fchsd2 T G 7: 100,920,778 (GRCm39) L461R probably benign Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Hectd4 G A 5: 121,472,532 (GRCm39) R2756Q possibly damaging Het
Ints14 A G 9: 64,882,932 (GRCm39) D261G probably damaging Het
Mapkapk5 C T 5: 121,672,490 (GRCm39) A163T probably benign Het
Micu3 A T 8: 40,835,156 (GRCm39) K504* probably null Het
Myh1 C G 11: 67,108,618 (GRCm39) H1345D possibly damaging Het
Myh7 C A 14: 55,216,146 (GRCm39) R1289L probably damaging Het
Neb G T 2: 52,132,068 (GRCm39) H280Q Het
Nrbp1 T A 5: 31,404,771 (GRCm39) probably null Het
Oacyl T A 18: 65,831,414 (GRCm39) V17D possibly damaging Het
Obsl1 C A 1: 75,480,157 (GRCm39) R463L possibly damaging Het
Or1f19 T A 16: 3,410,725 (GRCm39) L155Q probably damaging Het
Or8b40 G A 9: 38,028,010 (GRCm39) S311N probably benign Het
Pcnt A T 10: 76,217,128 (GRCm39) C2184* probably null Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Phrf1 T G 7: 140,834,815 (GRCm39) S198A unknown Het
Plekhg2 C G 7: 28,064,249 (GRCm39) A431P probably damaging Het
Ppp1r13b C T 12: 111,810,077 (GRCm39) D244N probably damaging Het
Rnf6 A G 5: 146,147,936 (GRCm39) S361P probably benign Het
Scgb2b19 G A 7: 32,978,039 (GRCm39) A86V probably benign Het
Sec23b T A 2: 144,408,728 (GRCm39) C138S possibly damaging Het
Slco1c1 T C 6: 141,505,606 (GRCm39) S511P possibly damaging Het
Tas2r130 A G 6: 131,607,175 (GRCm39) S207P probably damaging Het
Tdpoz1 A T 3: 93,578,540 (GRCm39) H81Q probably benign Het
Usp8 A G 2: 126,578,414 (GRCm39) K289E probably damaging Het
Vmn1r18 A C 6: 57,367,202 (GRCm39) N117K probably benign Het
Vps13c G T 9: 67,872,794 (GRCm39) G3270V probably damaging Het
Wdr20 A G 12: 110,760,187 (GRCm39) T358A probably benign Het
Wwc1 A C 11: 35,870,796 (GRCm39) probably null Het
Yars2 G T 16: 16,127,242 (GRCm39) V436L possibly damaging Het
Zfp609 G A 9: 65,604,512 (GRCm39) Q1324* probably null Het
Zfp81 T C 17: 33,553,774 (GRCm39) T347A probably benign Het
Zgpat T C 2: 181,021,366 (GRCm39) V292A probably benign Het
Other mutations in Raph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02300:Raph1 APN 1 60,565,106 (GRCm39) missense possibly damaging 0.76
IGL02900:Raph1 APN 1 60,542,022 (GRCm39) missense probably damaging 1.00
FR4976:Raph1 UTSW 1 60,528,426 (GRCm39) intron probably benign
R0048:Raph1 UTSW 1 60,539,764 (GRCm39) missense probably benign 0.03
R0048:Raph1 UTSW 1 60,539,764 (GRCm39) missense probably benign 0.03
R0049:Raph1 UTSW 1 60,565,058 (GRCm39) missense probably benign 0.03
R0049:Raph1 UTSW 1 60,565,058 (GRCm39) missense probably benign 0.03
R0227:Raph1 UTSW 1 60,565,136 (GRCm39) missense probably benign 0.00
R0387:Raph1 UTSW 1 60,549,655 (GRCm39) intron probably benign
R0607:Raph1 UTSW 1 60,565,028 (GRCm39) missense probably damaging 1.00
R1740:Raph1 UTSW 1 60,558,183 (GRCm39) nonsense probably null
R2274:Raph1 UTSW 1 60,537,659 (GRCm39) missense probably damaging 1.00
R3108:Raph1 UTSW 1 60,532,545 (GRCm39) missense probably benign 0.01
R3977:Raph1 UTSW 1 60,537,682 (GRCm39) missense probably benign 0.39
R4260:Raph1 UTSW 1 60,542,124 (GRCm39) missense possibly damaging 0.94
R4487:Raph1 UTSW 1 60,542,028 (GRCm39) missense possibly damaging 0.68
R4721:Raph1 UTSW 1 60,542,160 (GRCm39) unclassified probably benign
R4782:Raph1 UTSW 1 60,528,273 (GRCm39) missense probably damaging 1.00
R5027:Raph1 UTSW 1 60,535,436 (GRCm39) missense probably damaging 1.00
R5037:Raph1 UTSW 1 60,535,381 (GRCm39) splice site probably null
R5106:Raph1 UTSW 1 60,572,459 (GRCm39) missense probably damaging 1.00
R5506:Raph1 UTSW 1 60,532,657 (GRCm39) intron probably benign
R5510:Raph1 UTSW 1 60,562,105 (GRCm39) unclassified probably benign
R5587:Raph1 UTSW 1 60,537,632 (GRCm39) missense probably damaging 1.00
R5591:Raph1 UTSW 1 60,540,905 (GRCm39) unclassified probably benign
R5619:Raph1 UTSW 1 60,529,414 (GRCm39) intron probably benign
R5776:Raph1 UTSW 1 60,529,315 (GRCm39) intron probably benign
R5802:Raph1 UTSW 1 60,527,832 (GRCm39) missense possibly damaging 0.81
R6742:Raph1 UTSW 1 60,564,879 (GRCm39) missense probably damaging 0.97
R7122:Raph1 UTSW 1 60,565,136 (GRCm39) missense probably benign 0.10
R7219:Raph1 UTSW 1 60,542,032 (GRCm39) missense unknown
R7251:Raph1 UTSW 1 60,529,027 (GRCm39) missense unknown
R7254:Raph1 UTSW 1 60,538,767 (GRCm39) missense unknown
R7732:Raph1 UTSW 1 60,572,447 (GRCm39) missense possibly damaging 0.82
R7979:Raph1 UTSW 1 60,565,148 (GRCm39) missense probably benign 0.00
R7986:Raph1 UTSW 1 60,535,445 (GRCm39) missense
R8167:Raph1 UTSW 1 60,529,270 (GRCm39) missense unknown
R8168:Raph1 UTSW 1 60,538,779 (GRCm39) missense unknown
R8399:Raph1 UTSW 1 60,528,477 (GRCm39) missense unknown
R9036:Raph1 UTSW 1 60,542,124 (GRCm39) missense unknown
R9146:Raph1 UTSW 1 60,558,137 (GRCm39) critical splice donor site probably null
R9338:Raph1 UTSW 1 60,529,300 (GRCm39) missense unknown
R9381:Raph1 UTSW 1 60,540,959 (GRCm39) missense unknown
R9383:Raph1 UTSW 1 60,564,829 (GRCm39) missense unknown
R9399:Raph1 UTSW 1 60,565,154 (GRCm39) missense probably benign
R9454:Raph1 UTSW 1 60,528,753 (GRCm39) missense unknown
RF018:Raph1 UTSW 1 60,528,426 (GRCm39) intron probably benign
RF022:Raph1 UTSW 1 60,528,426 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CAGCCATTTCTCTGCATTTTAAGG -3'
(R):5'- AAACATGGCACCCTGAGAGG -3'

Sequencing Primer
(F):5'- CTGCATTTTAAGGCCAAAATAACAG -3'
(R):5'- AGAGGACCGTCATCTTCCTCTAATAG -3'
Posted On 2022-08-09