Incidental Mutation 'R5542:Itga9'
ID 436042
Institutional Source Beutler Lab
Gene Symbol Itga9
Ensembl Gene ENSMUSG00000039115
Gene Name integrin alpha 9
Synonyms D9Ertd428e, 6720458D17Rik, 2610002H11Rik
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5542 (G1)
Quality Score 138
Status Not validated
Chromosome 9
Chromosomal Location 118435777-118730071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118672729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 154 (F154L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044165] [ENSMUST00000124360]
AlphaFold B8JK39
Predicted Effect probably benign
Transcript: ENSMUST00000044165
SMART Domains Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115

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 benign
Transcript: ENSMUST00000124360
SMART Domains Protein: ENSMUSP00000122417
Gene: ENSMUSG00000039115

DomainStartEndE-ValueType
Pfam:Integrin_alpha2 1 357 2.1e-61 PFAM
transmembrane domain 395 417 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124422
Predicted Effect possibly damaging
Transcript: ENSMUST00000149150
AA Change: F154L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122408
Gene: ENSMUSG00000039115
AA Change: F154L

DomainStartEndE-ValueType
Pfam:Integrin_alpha2 1 144 7.8e-24 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign 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
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
R6919:Itga9 UTSW 9 118,716,883 (GRCm39) missense probably damaging 1.00
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'- AGAATTGTGTCCCCAACCTCC -3'
(R):5'- GCAGCATAAGCCTTCCTGATG -3'

Sequencing Primer
(F):5'- AACCTCCTTCGTGTATGGCGAG -3'
(R):5'- CCTACAGAGGTGAATGTCAGATGTTC -3'
Posted On 2016-10-24