Incidental Mutation 'R2877:Creb3l4'
ID 260592
Institutional Source Beutler Lab
Gene Symbol Creb3l4
Ensembl Gene ENSMUSG00000027938
Gene Name cAMP responsive element binding protein 3-like 4
Synonyms 5330432F22Rik, Tisp40beta, Tisp40, ATCE1, Tisp40alpha, mJAL, 1700012K17Rik, JAL
MMRRC Submission 040465-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.746) question?
Stock # R2877 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90144807-90150819 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90149615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 83 (S83R)
Ref Sequence ENSEMBL: ENSMUSP00000102992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029547] [ENSMUST00000107369]
AlphaFold Q9D2A5
Predicted Effect probably damaging
Transcript: ENSMUST00000029547
AA Change: S83R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938
AA Change: S83R

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
BRLZ 191 255 1.49e-13 SMART
low complexity region 275 291 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107369
AA Change: S83R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938
AA Change: S83R

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
BRLZ 191 255 1.49e-13 SMART
low complexity region 275 291 N/A INTRINSIC
Meta Mutation Damage Score 0.1299 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (66/69)
MGI Phenotype FUNCTION: This gene encodes a CREB (cyclic AMP-responsive element-binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein may play a role in adiposity and male germ cell development. Homozygous knockout mice for this gene show increased adipogenesis, elevated testicular germ cell apoptosis and defects in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,886,811 (GRCm39) probably benign Het
Abca13 C T 11: 9,241,889 (GRCm39) L1251F possibly damaging Het
Accsl A T 2: 93,689,755 (GRCm39) M384K probably damaging Het
Adss1 A C 12: 112,600,623 (GRCm39) K197N probably damaging Het
Alg11 A G 8: 22,555,374 (GRCm39) N170D possibly damaging Het
Ambn T C 5: 88,608,559 (GRCm39) probably benign Het
Anapc7 T C 5: 122,566,219 (GRCm39) Y43H probably benign Het
Anxa10 T A 8: 62,513,373 (GRCm39) I255F probably damaging Het
Atg2b A T 12: 105,630,268 (GRCm39) Y374* probably null Het
Axl T A 7: 25,465,949 (GRCm39) M563L probably damaging Het
Carmil2 A G 8: 106,422,055 (GRCm39) E1108G probably damaging Het
Casp1 T C 9: 5,303,110 (GRCm39) M188T probably damaging Het
Chd3 A T 11: 69,251,998 (GRCm39) C87* probably null Het
Col6a3 G A 1: 90,703,321 (GRCm39) T2475I unknown Het
Cyp2a4 G A 7: 26,011,612 (GRCm39) E278K possibly damaging Het
Dync1li2 A C 8: 105,156,047 (GRCm39) Y265D probably damaging Het
Eif3f G A 7: 108,534,019 (GRCm39) probably null Het
Eipr1 C T 12: 28,810,091 (GRCm39) T22I possibly damaging Het
Fbxo48 A G 11: 16,903,382 (GRCm39) K3E possibly damaging Het
Fbxw13 A G 9: 109,010,534 (GRCm39) F368S probably damaging Het
Fbxw19 A T 9: 109,315,038 (GRCm39) W175R probably damaging Het
Fibcd1 G A 2: 31,728,678 (GRCm39) P60S probably benign Het
Foxa3 A T 7: 18,748,805 (GRCm39) M107K probably benign Het
Foxj2 G A 6: 122,819,791 (GRCm39) D560N probably damaging Het
Gfm2 A G 13: 97,289,757 (GRCm39) R181G possibly damaging Het
Gpr25 C T 1: 136,188,553 (GRCm39) G20D possibly damaging Het
Grin1 A G 2: 25,187,641 (GRCm39) V594A probably damaging Het
Itpripl1 A G 2: 126,983,534 (GRCm39) V196A probably benign Het
Kcns1 A G 2: 164,006,682 (GRCm39) I427T probably damaging Het
Kiz T C 2: 146,731,476 (GRCm39) V322A possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc19 T A 15: 91,777,200 (GRCm39) noncoding transcript Het
Naa16 A G 14: 79,580,738 (GRCm39) M592T probably benign Het
Naa80 A T 9: 107,460,367 (GRCm39) E87D possibly damaging Het
Ncapd3 T A 9: 26,955,783 (GRCm39) probably null Het
Nebl C A 2: 17,439,740 (GRCm39) D178Y probably damaging Het
Nedd1 T A 10: 92,549,988 (GRCm39) N99I possibly damaging Het
Nuak1 T C 10: 84,211,209 (GRCm39) D293G possibly damaging Het
Or5b123 A T 19: 13,596,996 (GRCm39) I157F probably damaging Het
Or5m9b T C 2: 85,905,675 (GRCm39) M197T possibly damaging Het
Palb2 A G 7: 121,713,652 (GRCm39) V877A probably damaging Het
Rassf6 C T 5: 90,754,664 (GRCm39) V205I probably damaging Het
Rbak A G 5: 143,159,860 (GRCm39) Y398H probably damaging Het
Rcbtb1 A G 14: 59,448,041 (GRCm39) probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Smpdl3a C A 10: 57,685,181 (GRCm39) T317K probably damaging Het
Speer4e1 C T 5: 14,987,130 (GRCm39) V92M probably damaging Het
Syne2 A G 12: 76,047,605 (GRCm39) I4009V probably benign Het
Tarbp1 G A 8: 127,154,571 (GRCm39) L1474F probably damaging Het
Tchh A G 3: 93,351,535 (GRCm39) E325G unknown Het
Trpc4 T C 3: 54,198,761 (GRCm39) S562P probably damaging Het
Ttn T C 2: 76,567,409 (GRCm39) D27828G probably damaging Het
Ulk4 T C 9: 121,089,105 (GRCm39) D258G probably benign Het
Vmn1r215 A G 13: 23,260,731 (GRCm39) H257R probably benign Het
Vmn2r56 A C 7: 12,444,954 (GRCm39) M433R probably benign Het
Vmn2r76 C A 7: 85,875,201 (GRCm39) C592F probably benign Het
Zcchc8 C T 5: 123,838,766 (GRCm39) V591I probably benign Het
Znhit6 G C 3: 145,282,409 (GRCm39) G96A probably benign Het
Other mutations in Creb3l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Creb3l4 APN 3 90,149,294 (GRCm39) missense possibly damaging 0.95
IGL01015:Creb3l4 APN 3 90,150,138 (GRCm39) start codon destroyed probably null
IGL01092:Creb3l4 APN 3 90,145,045 (GRCm39) missense probably damaging 1.00
IGL02172:Creb3l4 APN 3 90,150,082 (GRCm39) missense probably benign 0.21
IGL02291:Creb3l4 APN 3 90,149,290 (GRCm39) missense probably benign 0.03
R1344:Creb3l4 UTSW 3 90,146,045 (GRCm39) missense possibly damaging 0.73
R1418:Creb3l4 UTSW 3 90,146,045 (GRCm39) missense possibly damaging 0.73
R1836:Creb3l4 UTSW 3 90,146,210 (GRCm39) missense probably benign 0.26
R2154:Creb3l4 UTSW 3 90,145,792 (GRCm39) missense probably damaging 1.00
R4923:Creb3l4 UTSW 3 90,149,521 (GRCm39) missense probably benign 0.00
R6024:Creb3l4 UTSW 3 90,146,006 (GRCm39) missense probably damaging 1.00
R6683:Creb3l4 UTSW 3 90,145,112 (GRCm39) missense probably benign 0.08
R7567:Creb3l4 UTSW 3 90,149,729 (GRCm39) missense probably benign 0.00
R8749:Creb3l4 UTSW 3 90,145,199 (GRCm39) missense probably benign
R8794:Creb3l4 UTSW 3 90,145,225 (GRCm39) missense probably benign 0.04
Z1088:Creb3l4 UTSW 3 90,145,058 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CAGTGGCACAGTTTGGGAAC -3'
(R):5'- TGTCCAAGAAGGGATAGCATTG -3'

Sequencing Primer
(F):5'- GGAACCTTCTCCCCTTAATCTCAC -3'
(R):5'- GACTACTGTCAGGTAAGACTGTC -3'
Posted On 2015-01-23