Incidental Mutation 'R2888:Prol1'
ID259987
Institutional Source Beutler Lab
Gene Symbol Prol1
Ensembl Gene ENSMUSG00000064156
Gene Nameproline rich, lacrimal 1
SynonymsMuc10
MMRRC Submission 040476-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R2888 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location88317312-88328814 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 88328309 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 186 (A186E)
Ref Sequence ENSEMBL: ENSMUSP00000132678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170832]
Predicted Effect unknown
Transcript: ENSMUST00000170832
AA Change: A186E
SMART Domains Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: A186E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
low complexity region 99 295 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik A T X: 78,370,682 I338F probably damaging Het
Acd A G 8: 105,698,838 S288P probably benign Het
Aimp2 T C 5: 143,909,735 probably benign Het
Atp8b2 T C 3: 89,958,293 D100G probably damaging Het
Cacna1i A T 15: 80,374,767 I1226F probably damaging Het
Dsp C A 13: 38,192,248 N1336K possibly damaging Het
Extl2 T C 3: 116,027,257 F251S probably damaging Het
Gm13089 G T 4: 143,696,890 T443K probably benign Het
Gusb T C 5: 130,000,502 H146R probably damaging Het
Itpr2 C T 6: 146,171,293 G2380S probably damaging Het
Kansl1l T C 1: 66,724,605 K762E probably benign Het
Krtap4-9 C A 11: 99,785,419 C55* probably null Het
Lamp1 T A 8: 13,173,891 L341H probably damaging Het
Llcfc1 A T 6: 41,684,603 K29M probably damaging Het
Malrd1 A T 2: 16,074,757 I1762F unknown Het
Muc5b G A 7: 141,861,554 V2746M probably damaging Het
Mug1 T A 6: 121,881,843 D1173E probably benign Het
Myo5b G C 18: 74,762,618 E1782Q probably damaging Het
Olfr325 T C 11: 58,581,162 F106S possibly damaging Het
Pcdha5 A G 18: 36,961,887 D483G probably damaging Het
Phex T C X: 157,310,958 I439V probably benign Het
Pkd1l1 T A 11: 8,947,251 S103C probably damaging Het
Plekha4 C T 7: 45,538,244 R176C probably damaging Het
Ppp1r3a T G 6: 14,718,249 S889R possibly damaging Het
Rbm39 C T 2: 156,167,583 R123H probably benign Het
Rtn4 T C 11: 29,693,687 S167P probably damaging Het
Slc35a5 A G 16: 45,151,560 C114R probably damaging Het
Smoc2 T C 17: 14,397,625 probably null Het
Sptbn2 A G 19: 4,748,636 T1998A possibly damaging Het
Tbc1d5 T A 17: 50,935,549 E173D probably damaging Het
Tsc2 A G 17: 24,631,995 probably null Het
Umps A T 16: 33,963,870 V71E probably damaging Het
Vmn2r13 T C 5: 109,191,974 D45G possibly damaging Het
Wdfy4 C A 14: 33,109,519 E917* probably null Het
Zfhx2 T C 14: 55,064,803 K1908R possibly damaging Het
Zfp511 A C 7: 140,039,382 D204A probably benign Het
Other mutations in Prol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Prol1 APN 5 88327859 missense probably benign 0.31
IGL00500:Prol1 APN 5 88328691 makesense probably null
IGL01943:Prol1 APN 5 88327961 missense probably benign 0.03
IGL03291:Prol1 APN 5 88328520 missense unknown
R2144:Prol1 UTSW 5 88328395 missense unknown
R3849:Prol1 UTSW 5 88328617 missense unknown
R4078:Prol1 UTSW 5 88328216 missense unknown
R4079:Prol1 UTSW 5 88328216 missense unknown
R4166:Prol1 UTSW 5 88328671 missense unknown
R5447:Prol1 UTSW 5 88328266 missense unknown
R5709:Prol1 UTSW 5 88327852 nonsense probably null
R6253:Prol1 UTSW 5 88327877 missense probably damaging 0.97
R7804:Prol1 UTSW 5 88328405 missense unknown
Predicted Primers PCR Primer
(F):5'- TAATGCTGATCAGTCGCCGT -3'
(R):5'- CAGACTTAGTTGTTGTAGGTATGGC -3'

Sequencing Primer
(F):5'- AGTCGCCGTTCTCCTAAATTTCTATG -3'
(R):5'- GCTAGGCTTAGGTGAAGTAGTAG -3'
Posted On2015-01-23