Incidental Mutation 'R6919:Itga9'
ID 539507
Institutional Source Beutler Lab
Gene Symbol Itga9
Ensembl Gene ENSMUSG00000039115
Gene Name integrin alpha 9
Synonyms D9Ertd428e, 6720458D17Rik, 2610002H11Rik
MMRRC Submission 045039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118435777-118730071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118716883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 396 (W396R)
Ref Sequence ENSEMBL: ENSMUSP00000122417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044165] [ENSMUST00000124360]
AlphaFold B8JK39
Predicted Effect probably damaging
Transcript: ENSMUST00000044165
AA Change: W982R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
AA Change: W982R

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Int_alpha 45 105 8.95e-7 SMART
low complexity region 181 191 N/A INTRINSIC
Int_alpha 244 297 2.12e-8 SMART
Int_alpha 301 356 1.68e-11 SMART
Int_alpha 361 416 2.9e-15 SMART
Int_alpha 423 476 1.11e-2 SMART
SCOP:d1m1xa2 626 766 3e-32 SMART
SCOP:d1m1xa3 769 970 1e-39 SMART
transmembrane domain 981 1003 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124360
AA Change: W396R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122417
Gene: ENSMUSG00000039115
AA Change: W396R

DomainStartEndE-ValueType
Pfam:Integrin_alpha2 1 357 2.1e-61 PFAM
transmembrane domain 395 417 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Aacs A G 5: 125,583,227 (GRCm39) D261G probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Ak1 A T 2: 32,521,134 (GRCm39) D101V possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dpm1 A G 2: 168,072,195 (GRCm39) Y27H probably damaging Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Emilin3 A T 2: 160,750,018 (GRCm39) I577N probably damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Hivep1 A G 13: 42,336,928 (GRCm39) I2336V probably benign Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Slc8a1 A G 17: 81,696,301 (GRCm39) F911S probably damaging Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M probably damaging Het
Other mutations in Itga9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Itga9 APN 9 118,598,227 (GRCm39) start codon destroyed probably null 0.02
IGL01396:Itga9 APN 9 118,436,191 (GRCm39) splice site probably benign
IGL01476:Itga9 APN 9 118,436,179 (GRCm39) missense probably damaging 1.00
IGL01573:Itga9 APN 9 118,706,298 (GRCm39) splice site probably benign
IGL01958:Itga9 APN 9 118,465,562 (GRCm39) splice site probably benign
IGL02060:Itga9 APN 9 118,490,500 (GRCm39) missense probably damaging 1.00
IGL02146:Itga9 APN 9 118,663,400 (GRCm39) missense possibly damaging 0.50
IGL02391:Itga9 APN 9 118,679,873 (GRCm39) missense probably benign 0.19
IGL02947:Itga9 APN 9 118,487,601 (GRCm39) missense probably damaging 1.00
IGL03014:Itga9 UTSW 9 118,457,212 (GRCm39) missense probably benign
R0052:Itga9 UTSW 9 118,465,617 (GRCm39) missense probably damaging 1.00
R0052:Itga9 UTSW 9 118,465,617 (GRCm39) missense probably damaging 1.00
R0142:Itga9 UTSW 9 118,465,654 (GRCm39) missense probably damaging 0.96
R0179:Itga9 UTSW 9 118,490,454 (GRCm39) missense probably benign 0.11
R0207:Itga9 UTSW 9 118,598,321 (GRCm39) splice site probably benign
R0364:Itga9 UTSW 9 118,670,210 (GRCm39) missense probably benign
R0458:Itga9 UTSW 9 118,510,096 (GRCm39) critical splice donor site probably null
R1486:Itga9 UTSW 9 118,455,518 (GRCm39) missense probably damaging 0.98
R1589:Itga9 UTSW 9 118,436,185 (GRCm39) critical splice donor site probably null
R1620:Itga9 UTSW 9 118,672,570 (GRCm39) missense probably benign 0.00
R1711:Itga9 UTSW 9 118,527,529 (GRCm39) missense probably benign 0.00
R1721:Itga9 UTSW 9 118,527,374 (GRCm39) splice site probably benign
R2064:Itga9 UTSW 9 118,636,361 (GRCm39) missense probably damaging 0.99
R2201:Itga9 UTSW 9 118,706,183 (GRCm39) splice site probably benign
R2851:Itga9 UTSW 9 118,465,604 (GRCm39) missense probably damaging 0.98
R2853:Itga9 UTSW 9 118,465,604 (GRCm39) missense probably damaging 0.98
R3962:Itga9 UTSW 9 118,457,254 (GRCm39) missense possibly damaging 0.57
R4180:Itga9 UTSW 9 118,436,146 (GRCm39) missense probably damaging 1.00
R4597:Itga9 UTSW 9 118,672,582 (GRCm39) missense probably damaging 1.00
R4716:Itga9 UTSW 9 118,510,826 (GRCm39) missense probably damaging 0.98
R4929:Itga9 UTSW 9 118,636,317 (GRCm39) missense probably damaging 1.00
R5002:Itga9 UTSW 9 118,492,966 (GRCm39) nonsense probably null
R5279:Itga9 UTSW 9 118,457,273 (GRCm39) missense probably damaging 1.00
R5542:Itga9 UTSW 9 118,672,729 (GRCm39) missense possibly damaging 0.86
R5869:Itga9 UTSW 9 118,492,957 (GRCm39) missense probably damaging 1.00
R6372:Itga9 UTSW 9 118,726,389 (GRCm39) missense probably damaging 1.00
R6470:Itga9 UTSW 9 118,726,335 (GRCm39) missense probably damaging 0.99
R6581:Itga9 UTSW 9 118,487,632 (GRCm39) missense probably benign 0.00
R7034:Itga9 UTSW 9 118,527,433 (GRCm39) missense probably benign 0.00
R7036:Itga9 UTSW 9 118,527,433 (GRCm39) missense probably benign 0.00
R7043:Itga9 UTSW 9 118,598,184 (GRCm39) missense probably damaging 0.96
R7237:Itga9 UTSW 9 118,465,670 (GRCm39) missense probably benign 0.09
R7491:Itga9 UTSW 9 118,598,179 (GRCm39) missense probably damaging 0.99
R7629:Itga9 UTSW 9 118,527,514 (GRCm39) missense probably benign 0.00
R7774:Itga9 UTSW 9 118,700,968 (GRCm39) missense probably damaging 1.00
R7782:Itga9 UTSW 9 118,672,712 (GRCm39) missense
R7789:Itga9 UTSW 9 118,487,564 (GRCm39) missense possibly damaging 0.80
R7904:Itga9 UTSW 9 118,706,294 (GRCm39) splice site probably null
R8086:Itga9 UTSW 9 118,679,869 (GRCm39) missense probably benign
R8158:Itga9 UTSW 9 118,706,211 (GRCm39) missense probably damaging 0.99
R8204:Itga9 UTSW 9 118,700,989 (GRCm39) missense probably damaging 1.00
R8895:Itga9 UTSW 9 118,510,835 (GRCm39) missense probably damaging 1.00
R9074:Itga9 UTSW 9 118,636,344 (GRCm39) missense probably damaging 1.00
R9090:Itga9 UTSW 9 118,500,859 (GRCm39) missense possibly damaging 0.93
R9271:Itga9 UTSW 9 118,500,859 (GRCm39) missense possibly damaging 0.93
R9318:Itga9 UTSW 9 118,455,536 (GRCm39) missense probably benign 0.03
R9434:Itga9 UTSW 9 118,636,315 (GRCm39) missense probably damaging 1.00
Z1176:Itga9 UTSW 9 118,716,907 (GRCm39) missense probably damaging 1.00
Z1176:Itga9 UTSW 9 118,672,598 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAACCCCAGCGTTCTTTC -3'
(R):5'- ACTGTGCAGGGAAACATCTCC -3'

Sequencing Primer
(F):5'- TCTTTCAGAGCCGAATGCAAG -3'
(R):5'- GGAAACATCTCCCAAGGTTCC -3'
Posted On 2018-11-06